Printer Friendly

Browse Genetic disorders topic

Diagnosis subtopic

Articles

1-300 out of 360 article(s) nextnext page
Title Author Type Date Words
An H-Shaped Duplicated Gallbladder Presenting with Acute Cholecystitis: A Case Report. Yilmaz, Ibrahim; Bostanci, Mustafa Taner; Saydam, Mehmet; Seki, Ahmet Clinical report Jan 19, 2021 1301
Adult congenital cardiac life-long needs evaluation in a low-middle income country, Pakistan. Ladak, Laila Akbar; Pearson, Disty; Jenkins, Kathy; Amanullah, Muneer; Ahmad, Waris; Schmeck, Kaitli Report Dec 29, 2020 4069
Ultrasonographic Findings in the Diagnosis of Obstructed Right Hemivagina and Ipsilateral Renal Agenesis (OHVIRA) Syndrome Associated with Uterus Didelphys with MRI Correlation--An Unusual Cause of Cyclic Abdominal Pain in a Prepubertal Girl--A Case Report. Patel, Yash; Fatima, Ishrat; Mahendru, Shivani; Agrawal, Kritika; Garg, Aastha Nov 9, 2020 1631
A targeted gene capture next-generation sequencing panel for genetic screening of newborns. Peng Qi; Liu Guojun; Zhu Pengyuan; Wu Chunqiu; He Xiaoguang; Li Wenrui; Rao Chunbao; Li Siping; Lu X Report Oct 31, 2020 3701
Genetic testing approaches for hereditary breast cancer: Perspectives from a private diagnostic laboratory. Smith, D.C.; Gardiner, S.A.; Conradie, M.; Gerber, J.; Loubser, F. Report Oct 1, 2020 3910
Infants with Congenital Disorders Identified Through Newborn Screening--United States, 2015-2017. Sontag, Marci K.; Yusuf, Careema; Crosse, Scott D.; Edelman, Sari; Miller, Joshua I.; McKasson, Sara Sep 11, 2020 3644
Congenital Malformations in a Holstein-Fresian Calf with a Unique Mosaic Karyotype: A Case Report. Uzar, Tomasz; Szczerbal, Izabela; Serwanska-Leja, Katarzyna; Gogulski, Maciej; Bugaj, Szymon; Switon Clinical report Sep 1, 2020 3320
Evaluation of prenatally diagnosed fetal sacrococcygeal teratomas: A case series of seventeen pregnancies from South-central Turkey / Prenatal donemde tani konulan sakrokoksigeal teratomlu fetuslerin degerlendirilmesi: Dogu Akdeniz Bolgesinden on yedi gebelik olgu serisi. Ozsurmeli, Mehmet; Buyukkurt, Selim; Sucu, Mete; Arslan, Erol; Misirlioglu, Selahattin; Akcabay, Cig Sep 1, 2020 2759
Correlation of ECG Changes with Coronary Angiographic Findings in Patients of Coronary Artery Disease. Somani, Ayush P.; Khadse, Satish R.; Kumar, Sunil; Acharya, Sourya; Gattani, Shreya C.; Baheti, Amit Aug 3, 2020 3510
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings. Isik, Esra; Akgun, Bilcag; Atik, Tahir; Ozkinay, Ferda; Qogulu, Ozgur Aug 2, 2020 2872
A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs. Detilleux, Johann. C. Report Jun 1, 2020 5304
A 27-YEAR-OLD PATIENT WITH CONGENITAL BLADDER EXSTROPHY AND RECURRENT PELVIC ORGAN PROLAPSE: A CASE REPORT/RECIDIVIRAJUCI PROLAPS ZDJELICNIH ORGANA KOD 27-GODISNJE BOLESNICE S PRIRODENOM EKSTROFIJOM MOKRACNOG MJEHURA: PRIKAZ SLUCAJA. Banovic, Vladimir; Mikus, Mislav; Kalafatic, Drzislav; Mandic, Vjekoslav; Oreskovic, Slavko Clinical report Jun 1, 2020 1601
Serum Bone Alkaline Phosphatase and Growth Hormone Levels May Help as a Diagnostic Criteria for Children with Amelogenesis Imperfecta. Ozdas, Didem Oner; Zorlu, Sevgi; Aren, Gamze Jun 1, 2020 2599
Intelligent Diagnosis of Heart Murmurs in Children with Congenital Heart Disease. Wang, Jiaming; You, Tao; Yi, Kang; Gong, Yaqin; Xie, Qilian; Qu, Fei; Wang, Bangzhou; He, Zhaoming May 31, 2020 4885
Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi. Karim, Kouser; Dileep, Dhanwati; Munim, Shama Report Apr 30, 2020 2221
A Radiographic Technique for Assessment of Morphologic Variations of the Equine Caudal Cervical Spine. Gee, Christine; Small, Alison; Shorter, Kathleen; Brown, Wendy Y. Report Apr 1, 2020 3622
Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24.3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene. Shahzadi, Misbah; Firasat, Sabika; Kaul, Haiba; Afshan, Kiran; Afzal, Rabia; Naz, Shagufta Clinical report Mar 31, 2020 2118
Anomalous origin of the left coronary artery from the pulmonary artery: A surgical certainty. Butt, Ayesha; Amanullah, Muhammad Muneer; Ahmed, Mehnaz Atiq; Hasan, Asif; Ahmad, Waris Clinical report Mar 31, 2020 1856
A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings. Alemayehu, Tinsae; Deribessa, Solomie Jebessa Report Mar 31, 2020 1685
Hemoglobin Sunshine Seth: A Case Report of Low-Oxygen-Affinity Hemoglobinopathy. Heidenreich, Leah S.; Oliveira, Jennifer L.; Holmberg, Peter J.; Rodriguez, Vilmarie Mar 1, 2020 2729
A cervical rib presenting as a hard, immobile lump in the neck. Checa, Angel Mar 1, 2020 932
Umbilical Cord Teratomas Associated With Congenital Malformations. Adams, Kristen V.; Bernieh, Anas; Morris, Robert W.; Saad, Ali G. Feb 1, 2020 2080
Congenital Lobar Hyperinflation - A rare anomaly misdiagnosed as bronchiolitis: A case report. Syed Muslim Mehdi, Usman Baig and Suffura Huma Jan 24, 2020 1593
Incidental Finding of Dextrocardia with Situs Inversus in a 59-Year-Old Man. Edzie, Emmanuel Kobina Mesi; Dzefi-Tettey, Klenam; Cudjoe, Obed; Gorleku, Philip Narteh; Adu, Patric Dec 31, 2019 2311
Comparison of Haematoxylin and Eosin Staining and Calretinin Immunohistochemistry in Clinically Suspected Hirschsprung Disease to Evaluate the Diagnostic Utility of Calretinin in Hirschsprung Disease. Keerthi, C.P.; Prema, N.S. Dec 9, 2019 2741
Infantile Myofibroma Presenting as a Large Ulcerative Nodule in a Newborn. Shahzad, Farooq; Chappell, Ava G.; Purnell, Chad A.; Aldulescu, Monica; Chamlin, Sarah Sep 30, 2019 2363
Stratification of Tetralogy of Fallot and Status of Pulmonary Artery by Cardiac CT (Pulmonary Angiography). Sarawagi, Ajad Kumar; Sodani, Varsha; Sodani, Rajendra Kumar; Verma, Mahesh Sep 9, 2019 3202
Fetal fibular hemimelia with focal femoral deficiency: A case report/Fokal femoral yetmezlikli fetal fibular hemimeli: Olgu sunumu. Yakistiran, Betul; Altinboga, Orhan; Yuce, Tuncay; Caglar, Ali Turhan Sep 1, 2019 1473
Internal Jugular Vein Phlebectasia in a Child: A Case Report. Kasim, Kasim S.; Hassan, Abdulrhim Mohammed; Hassan, Hassan Ibrahim; Mughairi, Sulaiman Mohammed Al- Sep 1, 2019 1624
Genetic testing for congenital heart defect management. Reece, E. Albert Sep 1, 2019 459
Evaluation of Recent Updates Regarding the Diagnosis and Management of Congenital Heart in Children. Alahmadi, Duaa Hamed; Alharthi, Woroud Mohammad; Jifri, Albatol Taha; Alkhabbaz, Mariyah Jaffer; Alh Report Jul 1, 2019 2817
Papillary Thyroid Carcinoma Spreading into Branchial Cleft Cyst. Gur, Harun; Arpaci, Rabia Bozdogan; Ismi, Onur; Dag, Ahmet; Vayisoglu, Yusuf; Gorur, Kemal Jun 1, 2019 2088
PCR: a versatile tool--from detecting genetic diseases and cancers to monitoring stability after bone marrow transplants. Snyder-Leiby, Teresa Jun 1, 2019 1237
Striking Visualization of Diffuse Congenital Nesidioblastosis on Ga-68 DOTATATE PET/CT/Diffuz Konjenital Nesidioblastosisin Ga-68 DOTATATE PET/BT'de Carpici Olarak Goruntulenmesi. Canbaz, Fevziye; Aydin, Murat; Meydan, Bilge Can; Bilgici, Meltem Ceyhan; Ariturk, Ender Jun 1, 2019 495
Initial assessment of a child with suspected disorder of sex development. Report May 31, 2019 3036
A case of an absent gall bladder presenting as biliary colic in a tertiary care hospital in Karachi. Report May 31, 2019 1523
Placental Cytomegalovirus Infection. Lindholm, Kaleigh; O'Keefe, Mary Report May 1, 2019 2664
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray lonization-Quadrupole Time-of-Flight Mass Spectrometry. Chen, Jie; Li, Xueli; Edmondson, Andrew; Meyers, Gail Ditewig; Izumi, Kosuke; Ackermann, Amanda M.; May 1, 2019 6138
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism. Koufakis, Theocharis; Sertedaki, Amalia; Tatsi, Elizabeth-Barbara; Trakatelli, Christina-Maria; Karr Apr 30, 2019 3385
EVALUATION OF PAROTID GLAND PATHOLOGY BY ULTRASONOGRAPHY AND COMPUTED TOMOGRAPHY IMAGING. Solanki, Manisha Narayanbhai; Shah, FalguniAhan; Patel, Hemangi Kartik; Charpot, Sunil Virsingbhai Report Mar 11, 2019 2800
Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions. Cobert, Lauren T. Report Mar 1, 2019 8097
ANAESTHETIC MANAGEMENT OF A PARTURIENT WITH SINGLE VENTRICLE POSTED FOR LAPAROSCOPIC SURGERY. Srinivas, Velagalaburre Yalappa; Rao, Santhosh Govinda; Sudarshan, Mathikere Boregowda Report Jan 28, 2019 1020
Chanarin-Dorfman syndrome. Kalyon, Semih; Gokden, Yasemin; Demirel, Naciye; Erden, Burak; Turkyilmaz, Ayberk Case study Jan 1, 2019 1367
Sectoral Ciliary Body Agenesis Complicated with Cataract Formation Diagnosed by Ultrasound Biomicroscopy. Totuk, Ozgun Melike Gedar; Salcan, Ilhami; Atalay, Melih; Aykan, Umit Report Nov 1, 2018 1376
Enhancers, repressors, and promoters. Brunstein, John Report Nov 1, 2018 1697
KIF21A Gene c.2860C>T Mutation in CFEOMlA: The First Report from Iran. Ramahi, Masoomeh; Rad, Abolfazl; Shirzadeh, Ebrahim; Najafi, Maryam Case study Oct 1, 2018 2003
Nasopharyngeal Glial Heterotopia with Intracranial Extension: A Case Report. Gokler, Ozan; Karanfil, Isil; Kocak, Ilker; Altuntas, Muzaffer Ozan; Armutlu, Ayse; Unal, Omer Faruk Case study Sep 1, 2018 1478
Clinical Course and Follow-Up o Type 1 Pseudohypoaldosteronism. Korkut, Sabriye; Akin, Leyla; Hatipoglu, Nihal; Ozdemir, Ahmet; Korkmaz, Levent; Kendirci, Mustafa; Sep 1, 2018 5666
EVALUATING EFFICIENCY IN SPECIALIZED HOSPITAL FACILITIES--DEVELOPING THE MODEL BY WAY OF THE DISCRIMINANT ANALYSIS. Szabo, Stanislav; Mihalcova, Bohuslava; Gallo, Peter; Ivanickova, Marianna Jul 1, 2018 8334
Diagnosis and Management of Lipoma in a Calf. Chaudhary, R.N.; Arora, Neeraj; Jangir, Babu Lal Disease/Disorder overview Jul 1, 2018 781
Lusory Artery, a clinical case report/Arteria Lusoria, reporte de un caso clinico/Arteria Lusoria, relato de um caso clinico. Suarez-Mantilla, Silvia; Rey-Ayala, Milena; Rodriguez-Restrepo, Laura; Lubinus-Badillo, Federico Gui Apr 1, 2018 3001
Two Infants with Presumed Congenital Zika Syndrome, Brownsville, Texas, USA, 2016-2017. Howard, Ashley; Visintine, John; Fergie, Jaime; Deleon, Miguel Apr 1, 2018 3831
Pediatric chest: A Review of the must-know diagnoses. Sood, Shreya; Rissmiller, Julia; Hryhorczuk, Anastasia Report Apr 1, 2018 4735
Collodion baby case series: the success of oral retinoic acid. Ozyurt, Banu Mutlu; Onay, Ozge Surmeli; Ersoy, Ozlem Case study Mar 1, 2018 3039
The Surgical Management Strategies in Congenital Pulmonary Airway Malformations: According to the Location of the Pulmonary Involvement. Divarci, Emre; Toker, Bade; Dokumcu, Zafer; Ozcan, Coskun; Erdener, Ata Report Mar 1, 2018 2046
Laparoscopic Surgery with Benign Features of Retrorectal Mass: A Report of Two Cases/Benign Ozellikli Retrorektal Kitle Nedeni ile Laparoskopik Cerrahi Yapilan Iki Olgu Sunumu. Er, Sadettin; Yuksel, Bulent Cavit; Tikici, Deniz; Yildiz, Baris Dogu Case study Mar 1, 2018 1565
MRI in the assessment of congenital heart disease. Deshpande, Aparna Report Feb 1, 2018 3475
Patent Omphalomesenteric Duct with Protruding Bowels through a Ruptured Omphalocele. Mammadov, Emil Clinical report Jan 1, 2018 452
Endoscopic Diagnosis of Congenital Megaoesophagus - A Study of Six Buffalo calves. Sasikala, K.; Vijayakumar, G.; Balasubramaniam, G.A. Report Jan 1, 2018 810
Congenital Midline Cervical Cleft and W-Plasty: Our Experience. Bahakim, Abdullah; Francois, Martine; Van Den Abbeele, Thierry Jan 1, 2018 3476
Early Diagnosis of Cardiovascular Diseases in Workers: Role of Standard and Advanced Echocardiography. Capotosto, Lidia; Massoni, Francesco; De Sio, Simone; Ricci, Serafino; Vitarelli, Antonio Jan 1, 2018 10797
Cyanotic Congenital Heart Disease and Diarrhea in a 42-Year-Old Man. Glancy, D. Luke; Tan, Chun W.; Helmcke, Frederick R. Clinical report Jan 1, 2018 777
Diagnosis and Surgical Management of Congenital Intranasal Teratoma in a Newborn: A Rare Case Report. Yeo, W.X.; Tan, K.K. Jan 1, 2018 2136
A Case of Congenital Syphilis Presenting with Unusual Skin Eruptions. Leung, Alexander K.C.; Leong, Kin Fon; Lam, Joseph M. Jan 1, 2018 1968
In Utero Diagnoses of Strikingly Similar Presentations of Complete Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant for Trisomy 21. Ling, Diamond; Dayan, Jonathan G. Jan 1, 2018 2474
Septate Uterus in a Girl with Rubinstein-Taybi Syndrome. de Castro Coelho D, Filipa; Camara, Sara; Alves, Ines; Brazao, Kathleen Jan 1, 2018 1864
A Lucky Accident: Brugada Syndrome Associated with Out-of-Hospital Cardiac Arrest. Lee, Michelle T.; Marah, Naddi Clinical report Jan 1, 2018 1603
Congenital Ventricular Diverticulum or Aneurysm: A Difficult Diagnosis to Make. Halpern, Lloyd; Garabedian, Carl; Worrall, Neil K. Jan 1, 2018 3660
Acute Clinical Manifestation of Mesenteric Heterotopic Pancreatitis: A Pre- and Postoperative Confirmed Case. de Kok, Bente M.; de Korte, Fleur I.; Perk, Lars E.; Terpstra, Valeska; Mieog, J. Sven D.; Zijta, Fr Jan 1, 2018 3370
Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. Guran, Tulay Report Dec 1, 2017 7944
Congenital Hyperinsulinism: Diagnosis and Treatment Update. Demirbilek, Huseyin; Hussain, Khalid Report Dec 1, 2017 14555
Synchronous Solid Pseudopapillary Tumor and Insulinoma in an Adolescent MEN1 Patient Presenting with Diagnostic Dilemmas. Ucar, Ahmet; Ozguven, Banu; Battal, Muharrem; Pinarli, Ferda Alparslan; Ozmen, Evrim; Yetim, Aylin; Case study Dec 1, 2017 2158
A Huge Congenital Left Atrial Appendage Aneurysm. Wang, He-Qing; Zhang, Zhe; Yang, Hang; Wu, Song; Fu, Yuan-Hao; Song, Zhi-Ming; Wan, Feng Case study Dec 1, 2017 1143
Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea. Awadhi, Haifa Al; Mehaidib, Ali Al; Saleem, Khalid Al; Banemai, Mohammed; Dekhail, Wajeeh Al Nov 1, 2017 2592
Congenital longitudinal melanonychia: a case report. Skornsek, Nina; Barac, Tijana Oresic; Marko, Pij Bogomir Case study Oct 1, 2017 1259
Aplasia cutis congenita with rare association and unusual presentation. Report Sep 30, 2017 1239
Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy. Gonc, E. Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun Case study Sep 1, 2017 3487
Late-Onset Congenital Adrenal Hyperplasia Diagnosed at 53 Years of Age. Saygili, Emre Sedar; Ozturk, Feyza Yener; Sen, Esra Cil; Erol, Rumeysa Selvinaz; Kesim, Belgin Erogl Clinical report Jun 1, 2017 323
A Rare Genodermatosis: H Syndrome. Sezer, Ozlem; Ozen, Duriye Sila Karagoz; Demirag, Mehmet Derya; Toto, Ismail; Ozturk, Hacer Pinar; T Case study Jun 1, 2017 375
POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency. Akgun, Bilcag; Karademir, Zehra; Isik, Esra; Darcan, Sukran; Aykut, Ayca; Durmaz, Asude; Ozen, Samim Report Jun 1, 2017 344
MEN 2A Family. Pekkolay, Zafer; Soylu, Hikmet; Balsak, Belma Ozlem Tural; Guven, Mehmet; Tuzcu, Alpaslan Kemal Brief article Jun 1, 2017 287
PREIMPLANTATION GENETIC DIAGNOSIS FOR T(2;5) (q37.1;q35.1): CASE REPORT. Karaca, Emin; Turk, Tuba Sozen; Akgun, Bilcag; Solmaz, Asli Ece; Pariltay, Erhan; Akin, Haluk; Cogul Brief article Jun 1, 2017 292
Etiological evaluation of primary congenital hypothyroidism cases. Bezen, Digdem; Dilek, Emine; Torun, Nese; Tutunculer, Filiz Report Jun 1, 2017 5412
CONGENITAL ANONYCHIA TOTALIS: A RARE OCCURRENCE IN A PAKISTANI FAMILY. Case study Mar 31, 2017 1401
A rare case of lipoid proteinosis. Petkar, Sunil; Galani, Vivek Clinical report Mar 2, 2017 791
HEREDITARY HYPERFERRITINEMIA AND CATARACT SYNDROME: A CASE REPORT. Guler, Ulviye Esra Bayat; Ozcan, Alper; Guler, Yunus; Unal, Ekrem; Per, Huseyin Clinical report Mar 1, 2017 385
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia. Panzer, Karin; Ekhaguere, Osayame A.; Darbro, Benjamin; Cook, Jennifer; Shchelochkov, Oleg A. Case study Mar 1, 2017 2562
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A). Celmeli, Gamze; Turkkahraman, Doga; Curek, Yusuf; Houghton, Jayne; Akcurin, Sema; Bircan, Iffet Report Mar 1, 2017 3134
TYPE 1 VON WILLEBRAND DISEASE IN ST. BERNARD DOG--CLINICAL PRESENTATION AND HEMOSTASIS PROFILE/DOENCA DE VON WILLEBRAND TIPO 1 GRAVE EM CAO DA RACA SAO BERNARDO--APRESENTACAO CLINICA E PERFIL DE HEMOSTASIA/ENFERMEDAD DE VON WILLEBRAND DE TIPO 1 EN UN PERRO DE LA RAZA DE SAN BERNARDO--PRESENTACION CLINICA Y EL PERFIL DE LA HEMOSTASIA. Dalmolin, Magnus Larruscaim; Lasta, Camila Serina; de Almeida Lacerda, Luciana; Camargo, Vanessa; Co Mar 1, 2017 2047
Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases. Hui, Winnie W.I.; Jiang, Peiyong; Tong, Yu.K.; Lee, Wing-Shan; Cheng, Yvonne K.Y.; New, Maria I.; Ka Report Feb 1, 2017 6471
A Meta-Analysis about the Screening Role of Pulse Oximetry for Congenital Heart Disease. Du, Caiju; Liu, Dianmei; Liu, Guojing; Wang, Huaixin Report Jan 1, 2017 4070
Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis. Ghadiam, Harshavardhan; Mungee, Sudhir Case study Jan 1, 2017 794
Severe Dilatation of Coronary Artery Ostium Complicating Sinus of Valsalva Aneurysm: Differential Diagnosis and Review of the Literature. Bamford, Paul; Collins, Nicholas Case study Jan 1, 2017 1971
Central Venous Line Insertion Revealing Partial Anomalous Pulmonary Venous Return: Diagnosis and Management. Alzghoul, Bashar; Innabi, Ayoub; Chada, Aditya; Tarawneh, Ahmad R.; Kakkera, Krishna; Khasawneh, Kha Clinical report Jan 1, 2017 2725
Different Clinical Features of Acral Abortive Hemangiomas. Mata, N. Vega; Gutierrez, J.C. Lopez; Allende, B. Vivanco; Garcia, M.S. Fernandez Report Jan 1, 2017 2760
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association. Chaudhary, Nagendra; Shrestha, Sandeep; Halwai, Hemant Kumar Clinical report Jan 1, 2017 2089
A Case of Congenital Brainstem Oligodendroglioma: Pathology Findings and Review of the Literature. Kostadinov, Stefan; de la Monte, Suzanne Report Jan 1, 2017 2004
"Monocept": A Brief Report of Congenital Absence of the Long Head of the Biceps Tendon and Literature Review. Winston, Benjamin A.; Robinson, Katlyn; Crawford, Dennis Clinical report Jan 1, 2017 1208
Complete Ectopia Cordis: A Case Report and Literature Review. Pius, Simon; Ibrahim, Halima Abubakar; Bello, Mustapha; Tahir, Mohammed Bashir Clinical report Jan 1, 2017 4114
Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review. da Rocha, Carolina Roos Mariano; Guedes, Renata Rostirola; Kieling, Carlos Oscar; Adami, Marina Ross Clinical report Jan 1, 2017 3009
A Wandering Abdominal Mass in a Neonate: An Enteric Duplication Cyst Mimicking an Ovarian Cyst. Iijima, Shigeo Clinical report Jan 1, 2017 2664
The Role of Laparoscopy in the Management of a Diagnostic Dilemma: Jejunal Ectopic Pancreas Developing into Jejunojejunal Intussusception. Giordano, Alessio; Alemanno, Giovanni; Bergamini, Carlo; Prosperi, Paolo; Bruscino, Alessandro; Vale Case study Jan 1, 2017 3437
Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions. Walsh, Roddy; Cook, Stuart A. Report Jan 1, 2017 9166
Kissing nevus of eyelids - Report of two cases. Report Dec 31, 2016 1191
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. Dursun, Fatma; Mohamoud, Hussein Sheikh Ali; Karim, Noreen; Naeem, Muhammad; Jelani, Musharraf; Kirm Report Dec 1, 2016 3593
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. Prochazkova, Dagmar; Hruba, Zuzana; Konecna, Petra; Skotakova, Jarmila; Fajkusova, Lenka Case study Dec 1, 2016 1076
A Baseline algorithm for molecular diagnosis of genetic eye diseases: Ophthalmologist's perspective. Sekeroglu, Hande Taylan; Utine, Gulen Eda; Alikasifoglu, Mehmet Letter to the editor Nov 1, 2016 793
Short Communication - Goldenhar syndrome: a report of rare case with subtle clinical features. Case study Sep 30, 2016 927
MIDLINE CLEFT OF LOWER LIP: REVIEW AND CASE REPORTS. Case study Sep 30, 2016 2486
A novel missense mutation in CLCN1 gene in a family with autosomal recessive congenital myotonia. Miryounesi, Mohammad; Ghafouri-Fard, Soudeh; Fardaei, Majid Sep 1, 2016 1411
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore. Aug 31, 2016 3441
Cold catchers. Brief article Aug 6, 2016 181
CDC: infants with Zika symptoms should get specialized care. Chitnis, Deepak Aug 1, 2016 723
GENETIC SCREENING AND GENETIC COUNSELLING AND ITS IMPORTANCE IN PAKISTAN. Jul 24, 2016 988
HEREDITARY CONGENITAL FACIAL PALSY. Jun 30, 2016 930
Congenital trypanosomiasis in child born in France to African mother. De Kyvon, Marie-Alix Lestrade-Carluer; Maakaroun-Vermesse, Zoha; Lanotte, Philippe; Priotto, Gerardo Clinical report May 1, 2016 1375
Acute viral bronchiolitis in South Africa: diagnostic flow. White, D.A.; Zar, H.J.; Madhi, S.A.; Jeena, P.; Morrow, B.; Masekela, R.; Risenga, S.; Green, R.J. Report Apr 1, 2016 1764
Antenatal ultrasound diagnosis of congenital anomalies: a central Indian perspective. Gurjar, Bhakti; Kedar, Kshama; Deshpande, Anagha Report Mar 21, 2016 2342
Management of congenital neurological defects: anaesthesiologist's challenge. Kaur, Harpreet; Ranjana; Chatrath, Veena Report Mar 17, 2016 1978
TAR (thrombocytopenia with absent radius) syndrome with congenital acyanotic heart disease: a rare case report. Jagtap, Ashok S.; Gupta, Ankit; Aundhakar, C.D.; Mishra, Lekha; Mahesh, Umardand Clinical report Mar 17, 2016 1015
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. Spencer, C.; Fieggen, K.; Vorster, A.; Beighton, P. Report Mar 1, 2016 3497
Unicuspid aortic valve--an uncommon anomaly with a common presentation. Sitwala, Puja; Abusara, Ashraf; Ladia, Vatsal; Panchal, Hemang B.; Raudat, Charles; Paul, Timir K. Clinical report Mar 1, 2016 982
Frequency and pattern of congenital heart defects in a tertiary care cardiac hospital of Karachi. Clinical report Feb 29, 2016 3525
An approach to a patient with infective endocarditis. Hitzeroth, J.; Beckett, N.; Ntuli, P. Report Feb 1, 2016 4262
Double inferior vena cava: a rare case report. Choudhary, Ganpat Singh; Bishnoi, Mohan Lai; Shanna, Awdesh Kumar Clinical report Jan 14, 2016 1485
Pediatric thumb flexion deformities. Shreve, Mark; Chu, Alice Report Jan 1, 2016 9562
Hyperemesis gravidarum in undiagnosed Gitelman's syndrome. Acelajado, Maria Czarina; Culpepper, R. Michael; Bolton, Wilburn D., III Case study Jan 1, 2016 2954
408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing. De Paula, Georgette Beatriz; Barros, Beatriz Amstalden; Carpini, Stela; Tincani, Bruna Jorda; Mazzol Report Jan 1, 2016 6314
Common Data Elements for Muscle Biopsy Reporting. Dastgir, Jahannaz; Rutkowski, Anne; Alvarez, Rachel; Cossette, Stacy A.; Yan, Ke; Hoffmann, Raymond Clinical report Jan 1, 2016 6387
Tracheobronchomegaly as a Cause of Bronchiectasis in an Adult. Govindaraj, Vishnukanth; Mohapatra, Madhusmita Mohanty; Kumar, Balla Nagamalli; Narayanasami, Suryak Jan 1, 2016 1860
Double-Layered Lateral Meniscus in an 8-Year-Old Child: Report of a Rare Case. Araki, Susumu; Kubo, Mitsuhiko; Kumagai, Kosuke; Imai, Shinji Clinical report Jan 1, 2016 1580
Fatal Meningitis in a 14-Month-Old with Currarino Triad. Qahtani, Hanan Mohammed Al; Aljoqiman, Khalid Suliman; Arabi, Hisham; Shaalan, Hesham Al; Singh, Sum Case study Jan 1, 2016 2644
Congenital absence of pectoral muscle: a case report. Kumar, Suresh; Burman, Mangilal Nov 23, 2015 1126
Harlequin ichthyosis: a case report. Ukkali, Sadashiva; Patil, Veena; Rajgoli, Emad A.; Kutty, Jafar Moideen; Desai, Mohammed Zeeshan Nov 12, 2015 1290
Congenital nephrotic syndrome: a diagnostic and management dilemma. Moodley, R.; Naicker, E.; Bhimma, R. Clinical report Nov 1, 2015 2058
Study on the prevalence of eruption status of third molars in south Indian population. Sivaramakrishnan, Swarna Meenakshi; Ramani, Pratibha Clinical report Oct 1, 2015 2317
Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome. Liu, Jia-Wei; Si, Nuo; Wang, Lian-Qing; Shen, Ti; Zeng, Xue-Jun; Zhang, Xue; Ma, Dong-Lai Report Oct 1, 2015 2344
Conservative management of an elite ice hockey goaltender with femoroacetabular impingement (FAI): a case report. MacIntyre, Kyle; Gomes, Brendan; MacKenzie, Steven; D'Angelo, Kevin Report Oct 1, 2015 6535
Torsion of ovary in MRKH syndrome presenting as irreducible sliding inguinal hernia. Palepu, Sneha; Kumar, Uday; Akhter, Md. Jawed; Avinash, Yaramati Sep 10, 2015 1080
Congenital indifference to pain: a report of three cases from Pakistan/Konjenital agriya kayitsizlik; Pakistan'dan uc olgu sunumu. Qureshi, Ali Raza; Ayaz, Saeed Bin; Khan, Atif Ahmed; Gill, Zaheer Ahmed Report Sep 1, 2015 2374
Herlyn-Werner-Wunderlich syndrome (HWW syndrome): a case report. Vishwekar, Pallavi S.; Sawant, Ganpat; Desai, Gaurav Aug 31, 2015 1066
Transverse colon duplication cyst- presenting as sub--hepatic cystic lesion. Kumar, A. Narendra; Kannaiyan, Lavanya; Perugu, Venkateshwar Jul 23, 2015 1080
Prenatal testing: understanding what's new and how to get support and information. Eidelman, Steven M.; Meredith, Stephanie; Saul, Robert A. Jul 1, 2015 1552
Genomics in medicine: from promise to practice. Urban, Michael F. Editorial Jul 1, 2015 2654
The Genetics of Split-Hand/Foot Malformation (SHFM) - A Pakistani Perspective. Report Jun 30, 2015 2813
Segmental neurofibromatosis: report of two cases of this rare entity and brief review of the literature. Report Jun 30, 2015 1323
Familial porokeratosis of Mibelli: A peerless entity. Report Jun 30, 2015 1326
Klippel-Trenaunay Syndrome accompanied by the findings of scoliosis and spinal nerve root compression due to AVM. Ozkan, Yasemin; Sanal, Bekir Report Jun 1, 2015 2561
Obstructed labour in pregnancy with uterus didelphys: a rare case report. Gomathi, V.; Mythili, K.; Sridevi May 28, 2015 1339
Osler-Weber-Rendu syndrome complicated with pulmonary arteriovenous malformation: A case report and review of literatures. Wang, Kuan-Yu; Chen, Jen-Chih; Hsu, Jane-Yi Report May 1, 2015 1522
Congenital high type anorectal malformation (recto-vaginal fistula) in a 7 months old girl: a case report. Kharnaior, Anderson; Suiyibangbe; Lokendra, K.; Devi, S. Ranita; Moirangthem, G.S. Clinical report Apr 27, 2015 1379
Laparoscopic appendicectomy in situs inversus totalis. Naik, M. Bhagavan; Rao, K. Sugunakara Report Apr 9, 2015 1291
Mitochondrial genetic disorders. Brunstein, John Apr 1, 2015 1579
Novel mutation in Wolcott-Rallison syndrome with variable expression in two Omani siblings. Sinani, Siham Al-; Yaarubi, Saif Al-; Sharef, S.W.; Murshedi, Fathyia Al-; Maamari, Watfa Al- Clinical report Mar 1, 2015 2251
Retrocaval ureter: a case report. Pankaj, Deepak; Prakash, Sanjay; Singh, Tushar Clinical report Feb 19, 2015 1242
Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Stojanov, Dragan; Aracki-Trenkic, Aleksandra; Vojinovic, Slobodan; Ljubisavljevic, Srdjan; Benedeto- Report Feb 1, 2015 4992
Newborn screening programme expanded. Brief article Feb 1, 2015 186
Non-compaction cardiomyopathy in an apparently healthy patient: a case report. Madhumalah, R.; Banerjee, Antara; Sahajananda, H.; Rohith, Soumya Report Jan 26, 2015 2079
A clinical study on congenital anomalies of breast in Rohilkhand region. Sharan, Jagadamba; Kumar, Kaushal; Raza, Md. Arshad; Srivatsava, Vijai Prakash Clinical report Jan 12, 2015 1424
Rhizomelic Chondrodysplasia punctata: a rare case report. Yashodhara, P.; Elizabeth, B.; Madhavi, N.; Kumar, B. Deeva; Reddy, A. Tirupathi Clinical report Jan 12, 2015 1453
Cherubism. Thompson, Lester D.R. Case study Jan 1, 2015 631
Congenital localised absence of skin (Bart's syndrome) rare case report. Sharma, Garima; Gupta, Anil Kumar Dec 18, 2014 973
Anaesthetic management of a case of congenital lobar emphysema in a neonate: a case report. Ramaiah, Yerramsetti Atchyutha; Lakshmi, B. Sowbagya; Vishnuvardhan, Athaluri; Vanapalli, Sirisha Nov 3, 2014 1987
Laparoscopic cholecystectomy in situs inversus with left-sided gall bladder. Neogi, Probal; Singh, Santosh Kumar Clinical report Nov 1, 2014 1231
The rise of multiplexing in the molecular laboratory. Crockard, Martin Nov 1, 2014 1390
Test improves outlook for congenital cataracts. Brief article Oct 17, 2014 272
A case report of palatal hamartoma with bifid tongue: rare congenital anomaly. Samagandi, Somashekhar; Shafiuddin, Mohammed; Malagimani, Shekappa C.; Rohith, M.; Ayyappa, S.A. Oct 9, 2014 991
Duplication of bowel presenting as chronic abdominal pain. Karlatti, Suresh S.; Havannavar, I.B.; Uma, R.B. Oct 6, 2014 853
Complete second branchial cleft anomaly presenting as a fistula and a tonsillar cyst: an interesting congenital anomaly. Thottam, Prasad John; Bathula, Samba S.; Poulik, Janet M.; Madgy, David N. Case study Oct 1, 2014 1269
Fibrodysplasia ossificans progressiva--radiological findings: a case report. Al-Salmi, Ishaq; Raniga, Sameer; Hadidi, Aymen Al- Clinical report Sep 1, 2014 2003
Multiple congenital malformations of female internal genitalia: its surgical correction. Mishra, Ritu; Misra, Aditya Prakash Clinical report Aug 11, 2014 1345
Dandy-walker malformation: A rare congenital anomaly. Fatima, Uroos; Arakeri, Satish; R., Ram Kumar K.; K., Roopa Clinical report Aug 4, 2014 1599
Bland-White-Garland syndrome: value of computed tomographic angiography. Ziadi, Marla C.; Diodato, Luis; Ameriso, Jose L.; Villavicencio, Roberto L. Clinical report Aug 1, 2014 588
Case report of spondyloepiphyseal dysplasia secondary to conginetal hypothyroidism. Venkateshwarlu, Jhatoth; Venkateshwararao, Tandra; Reddy, K. Ramkumar; Yadav, C.H. Srinivas Jul 28, 2014 1115
Reinnervation of facial muscles with only a cross-facial nerve graft in a 25-year-old patient with congenital facial palsy. Seyed-Forootan, Kamal; Karimi, Hamid; Hasani, Esmaiil Case study Jul 1, 2014 110
Heterotaxy syndrome with polysplenia. Winter, Bart J.; Reidman, Daniel A.; Statler, John Clinical report Jul 1, 2014 1164
Frequecy of G6PD deficiency in neonatal hyperbilirubinemia. Report Jun 30, 2014 2265
Bilateral Tessier cleft 3: a case report. Bordoloi, Utpal Clinical report Jun 23, 2014 1243
Case report of Beckwith-Wiedemann syndrome. Ravikanth, K.; Somaiah, G.; Anusha, G.; Reddy, D.V. Umesh; Reddy, R. Naveen Jun 9, 2014 1225
Late presentation of congenital diaphragmatic hernia: a case report. Al Ghafri, Mohammed; Al Sidairi, Ibtisam; Nayar, Madhavan Case study May 1, 2014 1265
Congenital chloride losing diarrhoea. Mar 31, 2014 1616
Cystic hygroma in adults-a rare case report. Mallick, Krushna Chandra; Khatua, Rabindra Kumar; Routray, Subhalaxmi; Lenka, Anasuya Case study Mar 10, 2014 1241
Prenatal diagnosis of granular cell tumor. Kadivar, Maliheh; Sangsari, Razieh; Alavi, Azin Case study Mar 1, 2014 1843
Pulmonary aplasia with unusual associations in a woman. Bachh, Arshad Altaf; Pulluri, Sridhar; Beigh, Aadil; Raju, Chippa; Deshpande, Ranganath Case study Mar 1, 2014 1439
Accessory spleen--a case report with a brief review. Devi, Keisam Anupama; Chinglensana, Laitonjam Feb 24, 2014 1723
Uncommon cause of paradoxical embolism in a case of scimitar syndrome. Alabi, Fortune O.; Umeh, Fred; Lama, Maximo; Christian, Francis G. Case study Jan 1, 2014 1412
Clinical approach to a suspected case of first branchial arch syndrome. Yamaguchi, Noboru; Nakamura, Shiho; Yamaza, Haruyoshi; Nishigaki, Soichiro; Masuda, Keiji; Yanagita, Case study Jan 1, 2014 2164
Scalp-ear-nipple syndrome: a case report. Morales-Peralta, Estela; Andres, Vivian; Betancourt, Daine Campillo Case study Jan 1, 2014 1036
MEN1 syndrome and hibernoma: an uncommonly recognised association? Hedayati, Venus; Thway, Khin; Thomas, J. Meirion; Moskovic, Eleanor Case study Jan 1, 2014 1841
M to T rearrangement: an approach to correct webbed neck deformity. Murthy, Ananth S.; McGraw, Margeaux Case study Jan 1, 2014 1586
Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations. Lacerda, Leticia da Silva; Alves, Ursula David; Zanier, Jose Fernando Cardona; Machado, Dequitier Ca Report Jan 1, 2014 4316
Cervical accessory tragus: an unusual pediatric neck mass. Lowry, Thomas R. Jan 1, 2014 320
When is a neck lump not a neck lump? Initial presentation of a solitary sternocleidomastoid muscle in an adult. Kumar, Sonia; Jervis, Suzie; Uppal, Harpreet Jan 1, 2014 878
Acrokeratoses verruciformis of HOPF: an association with polymorphic light eruption. Ramesh, M.; Ramya, N.; Gopal, M.G.; Kumar B.C., Sharath; Nandini, A.S. Clinical report Dec 2, 2013 1380
Microarray is 'go-to' test for multiple congenital anomalies. Worcester, Sharon Dec 1, 2013 792
New standard could improve diagnosis rates of inherited cholesterol condition. Nov 1, 2013 698
The concept of personalized medicine. Reece, E. Albert Nov 1, 2013 497
The case for universal carrier screening. Wapner, Ronald J. Nov 1, 2013 1703
An interesting rare case of benign congenital oesophago-bronchial fistula presenting in adulthood--a case report. M., Narayan; Dilip, Devershi Ajay; Ravindra, Chandankhede Abhijit Clinical report Oct 21, 2013 1574
Observations on congenital anomalies of gastrointestinal tract. Sinha, Sanjeev Kumar; Singh, Arun Prasad; Jyoti, Jai; Kumar, Nishant Report Oct 7, 2013 4590
A case report on septate uterus. Vasudha; Anitha; Syamala; Usharani Clinical report Sep 16, 2013 1063
Internipple measurements in Indian neonates. Faridi, M.M.A.; Dhingra, P. Report Sep 1, 2013 2751
An unusual case of Milroy disease. Schamroth, N.R. Clinical report Sep 1, 2013 723
What genetic testing means for families: a parent's story. Agoratus, Lauren Essay Aug 1, 2013 737
A child with progressive enlargement of the left foot. Gilbert, Patrick; Serou, Michael; Neitzschman, Harold R. Report Jul 1, 2013 728
Age of diagnosis for congenital hearing loss at Universitas Hospital, Bloemfontein. Butler, I.R.T.; Basson, S.; Britz, E.; de Wet, R.; Korsten, G.B.; Joubert, G. Report Jul 1, 2013 2168
Pathological spectrum of congenital anomalies of the gastrointestinal tract- a 5 year study at a paediatric referral centre. Ramani, M.; Krishna, O.H. Radhika; Geeta, K.; Reddy, K. Ramesh; Reddy, P. Sreenivas; Soumya, E.; Des Report Jun 24, 2013 2098
Avian Dis.: Total anomalous pulmonary venous connection in a chicken. Aihara, N.; Horiuchi, N.; Hikichi, N. Brief article Jun 1, 2013 118
Cellular mesoblastic nephroma: report of 3 cases. Ramani, M.; Rani, C. Sandhya; Geetha, K.; Reddy, K. Ramesh Report May 6, 2013 1815
Diagnosis of 5[alpha]-reductase 2 deficiency: is measurement of dihydrotestosterone essential? Chan, Angel On Kei; But, Betty Wai Man; Lee, Ching Yin; Lam, Yuen Yu; Ng, Kwok Leung; Tung, Joanna Y Report May 1, 2013 5439
Left ventricular noncompaction cardiomyopathy. Sherling, Kelley Willis; Nuttli, Theresa; Newman, William P., III; McGoey, Robin R. Clinical report May 1, 2013 1515
Treacher Collins syndrome--a rare congenital disorder. Gupta, Richa; Moupachi, Surendra Singh; Gupta, Shikha; Gupta, Saurabh; Gupta, Pallavi Clinical report Apr 29, 2013 1049
Prenatal ultrasound screening to diagnose congenital anomalies among one thousand unselected women and their pregnancy outcome. Biswas, Jhuma; De, Kaushik; Dasgupta, Shyamal; Ghosh, Biswajit; Sanyal, Poushali; Mukherjee, Amitava Report Apr 1, 2013 1971
Genetics in your practice: direct access to unexpected test results. Levy, Howard P. Apr 1, 2013 1383
Can antenatal ultrasounds help predict postnatal outcomes in babies born with Gastrochisis? The West Virginia experience. Janoo, Jabin; Cunningham, Micheal; Hobbs, Gerald R.; O'Bringer, Angela; Merzouk, Maria Report Mar 1, 2013 3328
Congenital absence of inferior vena cava with idiopathic deep vein thrombosis in an adult. Hooda, Deepak; Penumetsa, Karthik; Jackson, Timothy; Gharib, Wissam; Beto, Robert J.; Warden, Bradfo Case study Mar 1, 2013 1035
Evaluation of anatomy, variation and anomalies of the coronary arteries with coronary computed tomography angiography koroner arterlerin anatomi, varyasyon ve anomalilerinin koroner bilgisayarli tomografi anjiyografi ile degerlendirilmesi. Erol, Cengiz; Koplay, Mustafa; Paksoy, Yahya Mar 1, 2013 5761
Opening Scientific Training Forum for Diagnosing and Treatment of Leukemia and Blood Hereditary Disorders. Jan 30, 2013 177
Mermaid baby with multiple congenital anomalies in monochorionic twin gestation in diabetic mother. C., Meenal.; B., Hiremath P.; Bansal, Nidhi; Subhasini; Premaleela; Rajesh; Ravikannan Clinical report Jan 7, 2013 942
Diagnostic utility of microsatellite genotyping for molar pregnancy testing. Furtado, Larissa V.; Paxton, Christian N.; Jama, Mohamed A.; Tripp, Sheryl R.; Wilson, Andrew R.; Ly Report Jan 1, 2013 5318
Nasal encephalocele - a rare case report. Dec 31, 2012 1175
Prevalence of congenital absence of Palmaris Longus tendon in young Jizani population of Saudi Arabia: A cross sectional study. Hussain, Faisal Nazeer; Hasan, Tabinda Report Dec 31, 2012 3059
Diagnosis of microvillous inclusion disease: a case report and literature review with significance for Oman. Al-Sinani, Siham; Sharef, Sharef Waadallah; Lakhtakia, Ritu; Abdellatif, Mohamed Case study Nov 1, 2012 2528
Unilateral pulmonary artery agenesis: clinical and laboratory findings of four cases and diagnostic clues for pediatricians/Tek tarafli pulmoner arter yoklugu: cocuk uzmanlarina tani koymada ipuclari, dort olgunun klinik ve laboratuvar bulgulari. Karatas, Zehra; Alp, Hayrullah; Altin, Hakan; Baysal, Tamer Nov 1, 2012 1299
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to [beta]-thalassemia. Lam, Kwan-Wood G.; Jiang, Peiyong; Liao, Gary J.W.; Chan, K.C. Allen; Leung, Tak Y.; Chiu, Rossa W.K Report Oct 1, 2012 5196
Genetic testing. Report Sep 1, 2012 13004
Loeys-Dietz syndrome: a possible solution for Akhenaten's and his family's mystery syndrome. Eshraghian, Ahad; Loeys, Bart Report Aug 1, 2012 2675
Ultrasonographic contribution to the diagnosis of renal dysplasia in dogs/Contribuicao da ultrassonografia para o diagnostico da displasia renal em caes/Contribucion de la ecografia para el diagnostico de displasia renal en perros. Babicsak, Viviam Rocco; Zardo, Karen Maciel; dos Santos, Debora Rodrigues; Belotta, Alexandra Frey; Jun 1, 2012 1200
Intraareolar polythelia: a rare anomaly. Report May 31, 2012 1153
Neonatal screening for inborn errors of metabolism and congenital disorders. May 31, 2012 419
PCR beats culture for congenital CMV diagnosis. Osterweil, Neil May 1, 2012 666
Uterine hemangioma: a rare pathologic entity. Chou, Wan-Yi; Chang, Hui-Wen Disease/Disorder overview May 1, 2012 2788
DNA analysis for detection of genetic diseases. Snyder-Leiby, Teresa Apr 1, 2012 898
Pelvic congenital arteriovenous malformation diagnosed by transrectal ultrasonography: A case report. Suzuki, Kenjiro; Tanaka, Nobuyuki; Ebine, Takashi; Momma, Tetsuo Clinical report Apr 1, 2012 1529
REPAIR OF BILATERAL CONGENITAL UPPER EYELID COLOBOMA- A CASE REPORT. Sheikh, Muhammad Muneeb Clinical report Mar 31, 2012 1386
Ultrasonographic diagnosis of congenital aphakia in a dog--case report/Diagnostico ultrassonografico de afacia congenita em um cao--relato de caso/Diagnostico ultrasonografico de afaquia congenita en un perro--relato del caso. de Oliveira, Daniel Capucho; Froes, Tilde Rodrigues; Teixeira, Karen Medina; de Souza, Andressa Cris Mar 1, 2012 983
Intraocular medulloepithelioma. Saunders, Timothy; Margo, Curtis E. Feb 1, 2012 2923
Akhenaten, a unique pharaoh. Kelava, Tomislav; Cavka, Mislav Viewpoint essay Feb 1, 2012 528
Genetic blood disorders: questions you need to ask: no one is better positioned than you to look for evidence of inherited diseases--especially when you consider that many FPs care for 2, or even 3, generations of a single family. Starr, S. Paul Report Jan 1, 2012 4124
A case of congenital fistula from an accessory parotid gland: diagnosis and treatment. Pinto, Fabio Roberto Case study Jan 1, 2012 1502
What's on the genetics test? Walsh, Joseph A. Jan 1, 2012 4178
Inner ear malformations in siblings presenting with vestibular symptoms in early childhood. Butler, I.R.T.; Seedat, R.Y. Case study Sep 1, 2011 2067
Androgen. Sep 1, 2011 5701
Case report: infantile systemic hyalinosis: a dental perspective. Olczak-Kowalczyk, D.; Krasuska-Stawinska, E.; Rokicki, D.; Pronicki, M. Report Aug 1, 2011 2004
Genetic disorders in the Indian community of South Africa. Winship, W.S.; Beighton, P. Report Jul 1, 2011 2851
Unplugged: the code of life. Bersch, Carren May 1, 2011 1476
A rare case presentation of Meckel's diverticulum with situs inversus totalis. V., Yazhini.; Thanikachalam, Kannan Case study May 1, 2011 1192
Congenital bladder diverticulum--a rare adult presentation. Vaddi, S.; Pogula, V.R.; Devraj, R.; Sreedhar, A.V. Case study Apr 1, 2011 671
A 'Typical' day in my practice. Taylor, Matthew R.G. Apr 1, 2011 999
Genetic diseases. Sharrif, Moghaddasi M. Report Apr 1, 2011 2873
How does genetics fit in the field of disabilities? Krokosky, Alyson; Terry, Sharon F. Apr 1, 2011 776
Congenital self-healing reticulohistiocytosis (Hashimoto-Pritzker disease): case report/ Kendiliginden duzelen dogumsal retikulohistiyositoz (Hashimoto-Pritzker hastaligi): olgu sunumu. Gokmen, Zeynel; Ozkiraz, Servet; Kiyici, Halil; Ecevit, Ayse; Tarcan, Aylin Case study Mar 1, 2011 1221
Blood-clotting agent can be used to diagnose fatal genetic diseases. Feb 4, 2011 418
Legius syndrome can be easily misdiagnosed as NF1. Jancin, Bruce Clinical report Jan 1, 2011 357
Beware the bifid rib! Scheepers, Shaun; Andronikou, Savvas Clinical report Dec 1, 2010 531
Skin conditions can flag inherited internal diseases. Brunk, Doug Nov 1, 2010 421
Case report: rehabilitation of a child with dentinogenesis imperfecta and congenitally missing lateral incisors. Millet, C.; Viennot, S.; Duprez, J.P. Case study Oct 1, 2010 3005
A rare congenital midline cervical cleft. Warden, C.; Millar, A.J.W. Case study Aug 1, 2010 852
Exceptional family TV: The one in a billion genetic condition. Charlan, Nathan Aug 1, 2010 910
Congenital epulis. Bewley, Arnaud; Bloom, Jason D.; Kherani, Safeena; Pawel, Bruce R. Clinical report Jul 1, 2010 768
Genetic testing is used to confirm the presence of genetic diseases. Jun 1, 2010 1358
Inverted liver with suprahepatic, anteriorly displaced gallbladder. Hibbs, Harold; Ahmad, Usman Case study May 1, 2010 807
Genome-based diagnosis of genetic disease. Lam, Ching-Wan Apr 1, 2010 1040
Late referrals, the Fetal Medicine specialist's nightmare. de Coning, L. Brief article Apr 1, 2010 122
The classification of renal cystic diseases and other congenital malformations of the kidney and urinary tract. Bonsib, Stephen M. Report Apr 1, 2010 9869
Oral stereognostic ability in hypodontia patients. Ahmed, Bilal; Mirza, 1Kamran Masood; Butt, Amir Mehmood; Hussain, Mehmood; Yazdanie, Nazia Report Mar 31, 2010 2364
Multifactorial genetic disorders and adverse selection: epidemiology meets economics. Macdonald, Angus; Tapadar, Pradip Mar 1, 2010 12644
Interaction coaching with mothers of children with congenital deaf-blindness at home: applying the diagnostic intervention model. Janssen, Marleen J.; Riksen-Walraven, J. Marianne; van Dijk, Jan P.M.; Ruijssenaars, Wied A.J.J.M. Report Jan 1, 2010 5984
Developmental anterior dislocation of the radial head resulting from a congenital solitary osteochondroma of the proximal ulna in an infant. Garcia-Mata, Serafin; Hidalgo-Ovejero, Angel M. Case study Jan 1, 2010 2498
Results of American Hospital newborn hearing screening program/Amerikan Hastanesi yenidogan isitme taramasi sonuclari. Kayiran, Sinan Mahir; Genc, Erkhan; Erdil, Aysen; Gurakan, Berkan A. Clinical report Dec 1, 2009 2214
Bilateral congenital trigger thumb: a case report and discussion of management. Schessler, Matthew J.; McClellan, W. Thomas Case study Nov 1, 2009 1225
Antenatal testing. Kent, Athol Oct 1, 2009 578
Bilateral massive retinal gliosis associated with retinopathy of prematurity. Houston, S.K. Steven; Bourne, T. David; Lopes, M. Beatriz S.; Ghazi, Nicola G. Clinical report Aug 1, 2009 2150
Insights into selected genetic diseases affecting the female reproductive tract and their implication for pathologic evaluation of gynecologic specimens. Gwin, Katja; Wilcox, Rebecca; Montag, Anthony Report Jul 1, 2009 9336
Diastematomyelia--a case report/ Diastematomyeli: bir olgu sunumu. Turcan, Ayten; Umut, Saadet Yazgan; Sariyildiz, Mustafa Akif Case study Jun 1, 2009 1085
Pancreatic cysts: pathologic classification, differential diagnosis, and clinical implications. Basturk, Olca; Coban, Ipek; Adsay, N. Volkan Disease/Disorder overview Mar 1, 2009 13336
PGD can reduce the risk of a child with a specific genetic abnormality carried by one or both parents. Jan 1, 2009 684
Rare diseases: where to go for info. Feero, Greg Jan 1, 2009 832
Laryngeal saccular cyst in an infant. Pereira, Kevin D. Case study Jan 1, 2009 770
Thou good and faithful servant. Schneider, Carl E. Jan 1, 2009 1749
An unusual Brugada syndrome case/nadir gorulen bir Brugada sendromu vakasi. Orem, Cihan; Kiris, Gulhanim; Durmus, Ismet; Kaplan, Sahin; Gedikli, Omer; Baykan, Merih; Gokce, Mus Case study Oct 1, 2008 1269
Direct-to-consumer genetic analysis. Oct 1, 2008 992
Incontinentia pigmenti may not be that rare. Boschert, Sherry Sep 1, 2008 379
A parent's view of Ohdo syndrome. FitzZaland, Richard; FitzZaland, Mary Clinical report Aug 1, 2008 1262
What's new with newborn screening: newborn screening is the process of testing and screening newborns shortly after birth for certain, potentially dangerous, conditions and/or impairments--conditions that include everything from inborn errors of metabolism and other genetic disorders to hearing impairment. Aug 1, 2008 1540
Genetic discrimination rendered passe? Aug 1, 2008 899
Seventh cervical rib associated with subclavian artery occlusion and multiple infarcts: case report. Wise, Roxanne Case study Jun 1, 2008 2279
Family lives life fully in the face of a rare genetic disorder for all three children. Caroff, Maria May 1, 2008 3103
What should we do with carrier screening? Feero, Greg Mar 1, 2008 831
Congenital midline cervical cleft: a report of two cases. Franzese, Christine; Hayes, James D.; Nichols, Kristie Report Mar 1, 2008 2064
MRI of tarsal coalition: frequency, distribution, and innovative signs. Nalaboff, Kenneth M.; Schweitzer, Mark E. Clinical report Mar 1, 2008 4309
Attachment, bonding, and parental stress in CHARGE syndrome. Reda, Nicole M.; Hartshorne, Timothy S. Clinical report Jan 1, 2008 6722
Expanded newborn screening for genetic and metabolic disorders: modeling costs and outcomes. Hubbard, Heddy Bishop Nov 1, 2007 5862
Child's facial features could be used to spot rare diseases. Sep 10, 2007 410
Strengths, challenges, and relational processes in families of children with congenital upper limb differences. Murray, Christine E.; Kelley-Soderholm, Erin L.; Murray, Thomas L., Jr. Sep 1, 2007 9473
The Brugada syndrome: can we predict the risk? Bayata, Serdar Clinical report Jul 1, 2007 1359
Long-term follow-up of a multiloculated arachnoid cyst of the middle cranial fossa. Kennedy, David W. Jun 1, 2007 2759
Use obstetric history to identify diabetes before conception. Boschert, Sherry May 15, 2007 309
Fetal genetic abnormality inferred from US; code for further study. Witt, Melanie Brief article May 1, 2007 138
Noncompaction of the ventricular myocardium with bicuspid aortic valve/Bikuspid aort kapagi ile gorulen ventrikuler miyokardda "noncompaction". Cavusoglu, Yuksel; Aslan, Recep; Birdane, Alparslan; Ozbabalik, Demet; Ata, Necmi Mar 1, 2007 1638

Terms of use | Privacy policy | Copyright © 2021 Farlex, Inc. | Feedback | For webmasters