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1-139 out of 139 article(s)
Title Author Type Date Words
Unplanned hospital readmissions following congenital heart diseases surgery: Prevalence and predictors. Azhar, Ahmad S. Aug 1, 2019 5826
QU's Biomedical students present graduation projects. May 22, 2019 505
Success of Tricuspid Valve Detachment for Ventricular Septal Defect Closure: An Assessment of Midterm Tricuspid Valve Function. Bilen, Cagatay; Akkaya, Gokmen; Tuncer, Osman Nuri; Atay, Yuksel May 1, 2019 2443
Hormonal Contraceptives: What if Exposed During Pregnancy? Aykan, Duygun Altintas; Ergun, Yusuf Report Mar 1, 2019 3412
Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency. Dorr, Helmuth G.; Penger, Theresa; Albrecht, Andrea; Marx, Michaela; Volkl, Thomas M.K. Report Mar 1, 2019 2969
The Effect of Mode of Delivery on Newborn Hearing Screening Results. Guven, Selis Gulseven Author abstract Mar 1, 2019 3614
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
Seroprevalencia de anticuerpos IgG antirubeola y anticitomegalovirus en mujeres entre 16 y 40 anos residentes en Tunja, Colombia. Salamanca-Rojas, Sergio; Barahona-Lopez, Neydu M.; Marin-Valcarcel, Apuleyo; Vidal-Camargo, Paola A. Aug 1, 2018 3947
Growth characteristics in children with congenital adrenal hyperplasia. Alzanbagi, Mashael A.; Milyani, Asmaa A.; Agha, Abdulmoein E. Al- Jul 1, 2018 3294
Care or Neglect? Evidence of Animal Disease in Archeology: Proceedings of the 6th Meeting of the Animal Palaeopathology Working Group of the International Council for Archaeozoology (ICAZ), Budapest, Hungary, 2016. Book review Jul 1, 2018 164
Collodion baby case series: the success of oral retinoic acid. Ozyurt, Banu Mutlu; Onay, Ozge Surmeli; Ersoy, Ozlem Case study Mar 1, 2018 3039
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. Ganie, Y.; Aldous, C.; Balakrishna, Y.; Wiersma, R. Report Feb 1, 2018 5564
Experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast. Damasceno, Everson de Brito; de Figueiredo, Jakson Gomes; Franca, Jean Marcel Bezerra; Veras, Julio Feb 1, 2018 6095
Analysis of cases of gestational and congenital syphilis between 2008 and 2010 in Fortaleza, State of Ceara, Brazil. Cardoso, Ana Rita Paulo; Araujo, Maria Alix Leite; Cavalcante, Maria do Socorro; Frota, Mirna Albuqu Feb 1, 2018 8136
Relationship between hydrocephalus etiology and ventriculoperitoneal shunt infection in children and review of literature. Jan 31, 2018 2680
Is Genetic Counseling a Form of Eugenics?/Asesoramiento genetico: ?una practica que estimula la eugenesia?/Assessoria genetica: uma pratica que estimula a eugenia? Bernal, Ricardo Miguel Luque; Bejarano, Roberto Jose Buitrago Jan 1, 2018 7302
Seroprevalance of Rubella Antibodies Among Pregnant Women in a Regional Maternity Hospital in Eastern Turkey/Turkiye'nin Dogusunda Bir Bolge Hastanesinde Gebelerde Rubella Seroprevalansi. Tanriverdi, Esra Cinar; Dikbas, Levent; Alay, Handan; Kadioglu, Berrin G.; Ozkurt, Zulal Report Jan 1, 2018 2758
Amniocentesis precoz y biopsia de vellosidad corial. Perdidas fetales y anomalias congenitas en un grupo de gestantes brasilenas. Bernal, Luz Mery; Bernal, Maria Consuelo; Gollop, Thomaz Jan 1, 2018 6649
Health system in syphilis control, from the nurses' perspective/Sistema de saude no controle da sifilis na perspectiva das enfermeiras/Sistema de salud en el control de la sifilis en la perspectiva de las enfermeras. Nobre, Caroline Soares; de Albuquerque, Conceicao de Maria; Frota, Mirna Albuquerque; Machado, Maria Jan 1, 2018 4167
Effect of Timing of Initial Cataract Surgery, Compliance to Amblyopia Therapy on Outcomes of Secondary Intraocular Lens Implantation in Chinese Children: A Retrospective Case Series. Li, Liuyang; Wang, Yan; Xue, Caihong Jan 1, 2018 4774
Predictors of Neonatal Deaths in Ashanti Region of Ghana: A Cross-Sectional Study. Annan, Gertrude Nancy; Asiedu, Yvonne Report Jan 1, 2018 8410
Analysis of the development of Hirschsprung-associated enterocolitis in children. Burayev, Galymzhan Bauyrzhanovich; Lozovoy, Vassiliy Mikhaylovich; Kilda, Arturos Bronislavovich; Ka Report Dec 1, 2017 3879
Qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the Brazilian National Health System (SUS). Melo, Debora Gusmao; Germano, Carla Maria Ramos; Porciuncula, Carlos Guilherme Gaelzer; de Paiva, Is Oct 15, 2017 5581
An evaluation of patient satisfaction with custom-fit prosthesis of eye in a tertiary eye care centre. Kim, Usha; Krishna, K.S. Rajiv Report Jul 31, 2017 2580
Assessment of intelligence of uisually impaired children: exploratory study of fitness for items/Avaliacao da inteligencia de criancas deficientes visuais: estudo exploratorio da adequacao de itens/Evaluacion de la inteligencia de ninos con discapacidad visual: estudio exploratorio de la adecuacion de items. Campos, Carolina Rosa; de Cassia Nakano, Tatiana Jul 1, 2017 9318
Epidemiological surveillance of vertical transmission of syphilis: data from six federal units in Brazil/Vigilancia epidemiologica da transmissao vertical da sifilis: dados de seis unidades federativas no Brasil/Vigilancia epidemiologica de la transmision vertical de la sifilis: datos de seis unidades federativas de Brasil. Saraceni, Valeria; Pereira, Gerson Fernando Mendes; Silveira, Mariangela Freitas da; Araujo, Maria A Jun 1, 2017 7135
Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types. Gunes, Nilay; Erkan, Tulay; Kutlu, Tufan; Onay, Huseyin; Ozkinay, Ferda; Tuysuz, Beyhan Case study Jun 1, 2017 315
Sweden : Teva Announces Publication of COPAXONE (glatiramer acetate injection) Pregnancy Data in the International Journal of MS Care. May 8, 2017 387
Effects of prenatal [PM.sub.10] exposure on fetal cardiovascular malformations in Fuzhou, China: a retrospective case-control study. Liu, Chao-Bin; Hong, Xin-Ru; Shi, Miao; Chen, Xiao-Qiu; Huang, Hui-Juan; Chen, Jin-Hua; Yang, Kai; C May 1, 2017 8494
Health-worker barriers to syphilis screening in pregnant women in Bolivia's Los Andes network/Barreras del personal de salud para el tamizaje de sifilis en mujeres embarazadas de la Red Los Andes, Bolivia. Tinajeros, Freddy; Rey Ares, Lucila; Elias, Vanessa; Reveiz, Ludovic; Sanchez, Franz; Mejia, Martha; Medical condition overview May 1, 2017 4372
Health-worker barriers to syphilis screening in pregnant women in Bolivia's Los Andes Network/Barreras del personal de salud Para el tamizale de sifilis en mujeres Andes Bolivia. Tinajeros, Freddy; Ares, Lucila Rey; Elias, Vanessa; Reveiz, Ludovic; Sanchez, Franz; Mejia, Martha; Ensayo Apr 1, 2017 3763
Evaluation of a single dimension gel electrophoresis with immunofixation, with and without heparin, for heparin binding site defect in antithrombin deficiency. Legner, Janko; Phillips, Julia K.; Kendrick, Christopher J. Report Apr 1, 2017 2694
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
Prevalence of stunting and wasting among Anganwadi school children of rural and urban area of Central India: a cross-sectional study. Patil, Chaitanya R.; Thakre, Sushama S.; Khamgaonkar, Mohan B.; Thakre, Subhash Report Feb 1, 2017 2804
Uses, Limitations, and Validity of a Registry of Congenital Anomalies in Iran: A Critical Review. Stone, David H.; Dastgiri, Saeed; Heidarzadeh, Mohammad; Abdollahi, Hossein M.; Imani, Shahin; Maher Jan 1, 2017 3675
Analysis of Factors Associated with the Ocular Features of Congenital Cataract Children in the Shanghai Pediatric Cataract Study. He, Wenwen; Sun, Ting; Yang, Jin; Qin, Guoyou; Wu, Zhenyu; Zhu, Xiangjia; Lu, Yi Report Jan 1, 2017 5009
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. Nguyen, Thi Kim Lien; Pham, Van Dem; Nguyen, Thu Huong; Pham, Trung Kien; Nguyen, Thi Quynh Huong; N Clinical report Jan 1, 2017 4663
Caracterizacion de las anomalias congenitas desde la inclusion en el sistema de vigilancia Sivigila en Colombia, 2010-2013. Garcia Acero, Mary; Plata, Silvia Jan 1, 2017 2995
HIV and syphilis coinfection in pregnancy and vertical HIV transmission: a study based on epidemiological surveillance data/Coinfeccao HIV/sifilis na gestacao e transmissao vertical do HIV: um estudo a partir de dados da vigilancia epidemiologica. Acosta, Lisiane M.W.; Goncalves, Tonantzin Ribeiro; Barcellos, Nemora Tregnago Dec 1, 2016 6009
Sindrome PAGOD y anomalias vasculares: ?es un defecto de la angiogenesis embrionaria? Un nuevo caso y revision. Delgado-Luengo, Wilmer; Jeitas-Cabello, Herminia F.; Solis-Anez, Ernesto; Hernandez-Rodriguez, Maria Dec 1, 2016 5630
Social factors associated with use of prenatal care in Ecuador/Factores sociales asociados con la utilizacion de los servicios de atencion prenatal en Ecuador. Sanchez-Gomez, Amaya; Cevallos, William; Grijalva, Mario J.; Silva-Aycaguer, Luis C.; Tamayo, Susana Nov 1, 2016 4425
Sidra uses 3D models to enhance surgical planning. Sep 10, 2016 569
Presentation, management, and outcome of thyroglossal duct cysts in adult and pediatric populations: a 14-year single center experience. Thani, Hassan Al-; Menyar, Ayman El-; Sulaiti, Maryam Al-; Mabrok, Jamela El-; Hajaji, Khairi; Elgoh Report Jul 1, 2016 4791
Neural Crest Cells and their Relation to Congenital Heart Disease: Systematic Review of the Literature/ Celulas de la Cresta Neural y su Relacion con Cardiopatia Congenita: Revision Sistematica de la Literatura. Ramos, Victor; Roa, Ignacio Jun 1, 2016 3247
A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient. Sriphrapradang, Chutintorn; Thewjitcharoen, Yotsapon; Chanprasertyothin, Suwannee; Nakasatien, Soont Case study Jun 1, 2016 2938
GEOSPATIAL CLUSTERING OF GASTROSCHISIS IN POLAND: DATA FROM THE POLISH REGISTRY OF CONGENITAL MALFORMATIONS (PRCM). Materna-Kiryluk, Anna; Wieckowska, Barbara; Wisniewska, Katarzyna; Czyzewska, Malgorzata; Godula-Stu May 1, 2016 4579
Constitutional, legal and regulatory imperatives for the renewed care and prevention of congenital disorders in South Africa. Malherbe, H.; Christianson, A.L.; Aldous, C.; Christianson, M. Report May 1, 2016 5702
Effects of common pesticides on prostaglandin D2 (PGD2) inhibition in SC5 mouse Sertoli cells, evidence of binding at the COX-2 active site, and implications for endocrine disruption. Kugathas, Subramaniam; Audouze, Karine; Ermler, Sibylle; Orton, Frances; Rosivatz, Erika; Scholze, M Report Apr 1, 2016 7741
Variations in timing of elective orchidopexy/Varijacije u vremenuizvodenja elektivne orhidopeksije. Dobanovacki, Dusanka; Vuckovic, Nada; Slavkovic, Andelka; Prostran, Biljana Lucic; Lakic, Tanja; Gaj Mar 1, 2016 2254
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. Liu, Shiguo; Chai, Jian; Zheng, Guohua; Li, Huichao; Lu, Deguo; Ge, Yinlin Report Mar 1, 2016 3054
Congenital dyserythropoietic anemia: an etiopathological study. Ravilala, Vinod Kumar; Bapanpally, Narahari; Othuluru, Radhika Krishna; Kayla, Geetha; Anugu, Bheema Clinical report Dec 31, 2015 2092
Cardiotocograph: admission test and outcome. Minnalkodi, Nesam Susana Report Dec 21, 2015 5238
Congenital abnormalities of the optic nerve: this first article in a two-part series on optic nerve abnormalities concentrates on congenital conditions with a selection of case studies and short discussion. Lanier, Kate Case study Nov 1, 2015 2860
Infant mortality from congenital malformations in Chile: temporal and spatial analysis, 1997-2011/ Mortalidad infantil por malformaciones congenitas en Chile: analisis temporal y espacial, 1997-2011. Dipierri, Jose Edgardo; Acevedo, Nieves Elena; Bronberg, Ruben Adrian Nov 1, 2015 7144
Subarachnoid block in a patient with Ebstein's anomaly. Usha, Devi R.; Vasantha, Kumar K.R.; Vasundhara, V.M.; Prabhu, Aditi Oct 12, 2015 2404
Study of congenital malformations in newborn. Rao, K. Koteswara; Prasad, A. Krishna; Manikyamba, D.; Reddy, K. Adi; Solomon, Saawan P.; Anusha, S. Sep 28, 2015 3203
Determinacion de los genes, 16S ADNr, polA, y TpN47, en la deteccion de Treponema pallidum subsp. pallidum para el diagnostico de sifilis congenita. Pinilla B., Gladys; Chavarro P., Bibiana; Moreno A., Natalia; Navarrete O., Jeannette; Munoz M., Lil Jul 1, 2015 4140
Jejunal duplication cyst communicating with the common bile duct. Sumana, B.S.; Visweswara, R.N.; Ramesh, Reddy G. Jun 25, 2015 2130
Accuracy of OAE and BERA to detect the incidence of hearing loss in newborn. Bhatt, Jaideep; Kuchhal, Vaibhav; Saklani, Kapil; Kumar, Vikrant Clinical report Jun 18, 2015 2678
IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate/ Expresion de IRF6, RYK y PAX9 en el Tejido Facial de Ninos con Paladar Fisurado. Smane, Liene; Pilmane, Mara Jun 1, 2015 2761
Sifilis gestacional y mortinatalidad en la region de las Americas: una revision sistematica y metanalisis. Arnesen, Lauren; Serruya, Suzanne; Duran, Pablo Jun 1, 2015 6058
Prevalence of gestational diabetes mellitus using "single step 75 gram OGTT" in a tertiary centre. Rao, P.V. Raghava; Anuradha, C.; Parasa, V. Mahalakshmi Mar 2, 2015 3140
Causes of genetic degradation in fisheries. Nazish, Nadia; Abbas, Khalid; Abdullah, Sajjid; Zamer, M. Shahid Ibni; Rehman, M. Saifur Feb 22, 2015 885
Histology of placenta in intrauterine growth restricted pregnancy. Bal, Kana; Basu, Saubhik; Bal, Runa Nov 24, 2014 2265
Safety and efficacy of paediatric PCNL. Jagadeeshwar, T.; Jahagirdhar, Ravi; Bhagawan, A.; Murthy, N. Rama; Ravichandar, G.; Mallikarjun, G. Oct 20, 2014 2368
Management of congenital talipes equinovarus by Ponseti method. Zuber, Mohammad; Jahan, Ishrat; Kumar, Sanjeev Oct 16, 2014 4525
United Kingdom : Health Minister announces new model for delivery of Paediatric Congenital Cardiac Services (PCCS). Oct 14, 2014 292
Evaluation of neonatal cardiac murmurs. Somaiah, G.; Devi, T. Santhoshini; Geshmanjali; Suneetha; Kumar, K. Praveen; Prasad, K. Hari; Reddy, Sep 15, 2014 3385
Foetal endoscopic tracheal occlusion for severe congenital diaphragmatic hernia - a systemic review and meta-analysis of randomized controlled trials. Jun 30, 2014 2212
Attachment characteristics and behavioral problems in children and adolescents with congenital blindness/Dogustan gorme engeli olan cocuk ve ergenlerde baglanma ozellikleri ve davranissal sorunlar. Demir, Turkay; Bolat, Nurullah; Yavuz, Mesut; Karacetin, Gul; Dogangun, Burak; Kayaalp, Levent Report Jun 1, 2014 4717
Mermaid baby in twin pregnancy. Singh, Alpana; Dutta, Dipanwita; Lal, Sweta; Agarwal, Rachna; Radhakrishnan, Gita Case study Mar 17, 2014 1038
Traffic-related air pollution and congenital anomalies in Barcelona. Schembari, Anna; Nieuwenhuijsen, Mark J.; Salvador, Joaquin; de Nazelle, Audrey; Cirach, Marta; Dadv Report Mar 1, 2014 9247
Pregnancy with heart disease--fetomaternal outcome. Sen, Mainak; Bhattacharyya, Parnamita; Chowdhury, Nilanjana Feb 3, 2014 2299
VEGF receptor expression decreases during lung development in congenital diaphragmatic hernia induced by nitrofen. Sbragia, L.; Nassr, A.C.C.; Goncalves, F.L.L.; Schmidt, A.F.; Zuliani, C.C.; Garcia, P.V.; Gallindo, Report Feb 1, 2014 5256
A new look at theory of mind in children with ocular and ocular-plus congenital blindness. Begeer, Sander; Dik, Marjolein; voor de Wind, Marieke J.; Asbrock, Doreen; Brambring, Michael; Kef, Report Jan 1, 2014 5234
Introducing an intervention model for fostering affective involvement with persons who are congenitally deafblind. Martens, Marga A.W.; Janssen, Marleen J.; Ruijssenaars, Wied A.J.J.M.; Riksen-Walraven, J. Marianne Author abstract Jan 1, 2014 5086
Combined paediatric liver-kidney transplantation: analysis of our experience and literature review. Strobele, B.; Loveland, J.; Britz, R.; Gottlich, E.; Welthagen, A.; Botha, J. Report Dec 1, 2013 5322
Cost-effective and scalable DNA extraction method from dried blood spots. Saavedra-Matiz, Carlos A.; Isabelle, Jason T.; Biski, Chad K.; Duva, Salvatore J.; Sweeney, Melissa Report Jul 1, 2013 3614
The phenotype-genotype relationship in severe congenital neutropenia patients. Baris, Safa; Aydiner, Elif Karakoc; Kiykim, Ayca; Cagan, Havva Hasret; Boztug, Kaan; Barlan, Isil Dec 1, 2012 3992
Stem cell model for hereditary disease developed. Nov 5, 2012 629
Stem cell model for hereditary disease developed. Oct 29, 2012 628
The relation of serum paraoxonase-1 activity with isolated coronary artery ectasia: an observational study/Serum paraoksonaz-1 aktivitesinin izole koroner arter ektazisi ile iliskisi: gozlemsel bir calisma. Altiparmak, Ibrahim Halil; Kaya, Zekeriya; Sezen, Hatice; Aydin, Mehmet Salih; Demirbag, Recep; Akso Report Jun 1, 2012 3482
Analysis of maximum P-wave duration and dispersion after percutaneous closure of atrial septal defects: comparison of two septal occluders/Atriyal septal defektlerin perkutan kapatilmasi sonrasi maksimum P dalga suresi ve dispersiyon analizi: iki septal okluderin karsilastirilmasi. Pac, Feyza Aysenur; Balli, Sevket; Topaloglu, Serkan; Ece, Ibrahim; Oflaz, Mehmet Burhan Report May 1, 2012 4072
The impact of molecular techniques on cytology. Burton, Ruth Apr 1, 2012 2058
DNA analysis for detection of genetic diseases. Snyder-Leiby, Teresa Apr 1, 2012 898
The association between pulmonary arterial hypertension and malnutrition in children with congenital heart diseases with left-to-right shunt: an observational study/Sol-sag santli dogustan kalp hastaligi olan cocuklarda pulmoner arteriyel hipertansiyonla malnutrisyonun iliskisi: gozlemsel bir calisma. Altin, Hakan; Karatas, Zehra; Sap, Fatih; Alp, Hayrullah; Baysal, Tamer; Karaaslan, Sevim; Oran, Bul Report Mar 1, 2012 6441
Junction site analysis of chimeric CYP21A1p/CYP21A2 genes in 21-hydroxylase deficiency. Chen, Wuyan; Xu, Zhi; Sullivan, Annie; Finkielstain, Gabriela P.; Van Ryzin, Carol; Merke, Deborah P Feb 1, 2012 5869
Meta-analysis outlines lithium toxicity profile. Worcester, Sharon Feb 1, 2012 875
Evaluation of hemoglobinopathy screening results of a six year period in Turkey. Arica, Secil Gunher; Turhan, Ebru; Ozer, Cahit; Arica, Vefik; Silfeler, Dilek Benk; Silfeler, Ibrahi Report Feb 1, 2012 2069
Polidactilia en los cuatro miembros, en una potranca mestiza en Chile. Sepulveda S., Onesimo; Rehhof V., Christian; Ortiz R., Reinaldo; Munoz A., Lisandro Report May 1, 2011 2398
Gastrointestinal system malformations in children are associated with congenital heart defects/Gastrointestinal sistem malformasyonlari cocuklarda dogumsal kalp defektleri ile iliskilidir. Orun, Utku Arman; Bilici, Meki; Demirceken, Fulya G.; Tosun, Mahya; Ocal, Burhan; Hakan Cavusoglu, Y Clinical report Mar 1, 2011 2411
Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia. Canturk, Cumhur; Baade, Ulrike; Salazar, Ramona; Storm, Niels; Portner, Ralf; Hoppner, Wolfgang Mar 1, 2011 3863
Neonatal mortality and short term prognosis in newborns born after assisted reproduction techniques/ Yardimci ureme teknikleri ile saglanan gebeliklerden dogan bebeklerde yenidogan olum orani ve kisa donemdeki seyri. Ozer, Esra Arun; Turkoglu, Ebru; Balli, Tansu; Sutcuoglu, Sumer; Erdemir, Aydin; Cosar, Hese; Kahram Report Mar 1, 2011 3265
Informatics of newborn screening for congenital hypothyroidism in Alberta 2005-08: flow of information from birth to treatment. Dawrant, Jonathan M.; Pacaud, Daniele; Wade, Andrew; Archer, Shaina; Bamforth, Fiona J. Report Jan 1, 2011 2655
Manejo estomatologico del paciente pediatrico con cardiopatia congenita. Revision de la literatura. Zavala Cornejo, Karla Berenice; Vinitzky Brener, Ilan; Ramirez Bouchan, Daniel Report Jan 1, 2011 6406
Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome/ Down sendromlu cocuklarda konjenital kalp hastaliklari ve ur old anormalliklerinin degerlendirilmesi. Mihci, Ercan; Akcurin, Gayaz; Eren, Erdal; Kardelen, Firat; Akcurin, Sema; Keser, Ibrahim; Ertug, Ha Report Oct 1, 2010 4680
Rates of congenital anomalies and other adverse birth outcomes in an offspring cohort of registered nurses from British Columbia, Canada. Arbour, Laura T.; Beking, Kris; Le, Nhu D.; Ratner, Pamela A.; Spinelli, John J.; Teschke, Kay; Gall Report May 1, 2010 4309
Modelo para la dinamica de transmision de la toxoplasmosis congenita. Ocampo, Lina M.; Duarte-Gandica, Irene Report Apr 1, 2010 2716
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
Prevalencia de las cardiopatias congenitas en un hospital de la ciudad de Manizales, Colombia, anos 2000 y 2008. Acosta, Johana C.; Alvarez, Carolina; Castano Castrillon, Jose Jaime; Gaitan, Luisa F.; Leon, Ana Ma Report Dec 1, 2009 4702
Healthcare on two home fronts: Mother of twin daughters with autism is hospital corpsman treating Iraqi women and children. Caroff, Maria Jun 1, 2008 3989
Chapter 10 Genetics. Parker, Rick Jan 1, 2008 7192
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. Perez-Cerda, Celia; Quelhas, Dulce; Vega, Ana I.; Ecay, Jesus; Vilarinho, Laura; Ugarte, Magdalena Jan 1, 2008 4454
Cytomolecular approaches in congenital heart disease: a review. Gowde, Harshavardhan; Patel, Z.M. Jul 1, 2007 2652
Genetics and skin disease. Wood, E.J. May 1, 2007 772
Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5t allele in the CFTR gene. Mantovani, Vilma; Garagnani, Paolo; Selva, Paola; Rossi, Cesare; Ferrari, Simona; Cenci, Marinella; Mar 1, 2007 2289
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Wopereis, Suzan; Grunewald, Stephanie; Huijben, Karin M.L.C.; Morava, Eva; Mollicone, Rosella; Van E Feb 1, 2007 5367
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Kennerson, Marina L.; Warburton, Trent; Nelis, Eva; Brewer, Megan; Polly, Patsie; De Jonghe, Peter; Clinical report Feb 1, 2007 2248
Development and performance evaluation of a tandem mass spectrometry assay for 4 adrenal steroids. Kushnir, Mark M.; Rockwood, Alan L.; Roberts, William L.; Pattison, Elizabeth G.; Owen, William E.; Aug 1, 2006 5888
Supernumerary nostril with congenital cataract. Bit, Utpal Kumar Nov 1, 2005 1587
Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried blood spots by immunoassay with xMAP technology. Skogstrand, Kristin; Thorsen, Poul; Norgaard-Pedersen, Bent; Schendel, Diana E.; Sorensen, Line C.; Oct 1, 2005 10775
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 2I-hydroxylase deficiency. Kosel, Siegfried; Burggraf, Siegfried; Fingerhut, Ralph; Dorr, Helmut G.; Roscher, Adelbert A.; Olge Clinical report Feb 1, 2005 3894
New agents hold promise for atopic children; fewer side effects, but no cure. Tucker, Miriam E. Jun 15, 2004 1041
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. Garcia-Barcelo, Merce; Sham, Mai-Har; Lee, Wing-Shan; Lui, Vincent Chi-Hang; Chen, Benedict Ling-Sze Jan 1, 2004 5733
Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Langmann, Thomas; Mauerer, Richard; Zahn, Alexandra; Moehle, Christoph; Probst, Mario; Stremmel, Wol Feb 1, 2003 5463
Validation of a high-throughput liquid chromatography-tandem mass spectrometry method for urinary cortisol and cortisone. Taylor, Robert L.; Machacek, Dwaine; Singh, Ravinder J. Sep 1, 2002 5809
Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Wang, XinJing; Myers, Angela; Saiki, Randall K.; Cutting, Garry R. Jul 1, 2002 1801
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Krone, Nils; Braun, Andreas; Weinert, Stefanie; Peter, Michael; Roscher, Adelbert A.; Partsch, Carl- Jun 1, 2002 4987
Prenatal exclusion of recessively inherited disorders: should maternal plasma analysis precede invasive techniques? Bianchi, Diana W. May 1, 2002 1730
Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Chiu, Rossa W.K.; Lau, Tze K.; Cheung, Pik T.; Gong, Zhi Q.; Leung, Tse N.; Lo, Y.M. Dennis May 1, 2002 2300
Inherited nerve cell disorder. (Medical Mailbox). SerVaas, Cory Brief Article Mar 1, 2002 303
Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry. Magera, Mark J.; Helgeson, Janice K.; Matern, Dietrich; Rinaldo, Piero Nov 1, 2000 3666
Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays. Romppanen, Eeva-Liisa; Mononen, Ilkka Jun 1, 2000 4862
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Ito, Tetsuya; van Kuilenburg, Andre B.P.; Bootsma, Albert H.; Haasnoot, Anja J.; van Cruchten, Arno; Apr 1, 2000 4669
Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism. Adam, Tomas; Friedecky, David; Fairbanks, Lynette D.; Sevcik, Juraj; Bartak, Petr Dec 1, 1999 3686
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. Romstad, Anne; Guldberg, Per; Blau, Nenad; Guttler, Flemming Dec 1, 1999 4985
Clinically useful information provided by the flow cytometric immunophenotyping of hematological malignancies: current status and future directions. Orfao, Alberto; Schmitz, Gerd; Brando, Bruno; Ruiz-Arguelles, Alejandro; Basso, Giuseppe; Braylan, R Oct 1, 1999 8699
Efficiency of two different nine-loci short tandem repeat systems for DNA typing purposes. Sacchetti, Lucia; Calcagno, Giuseppe; Coto, Iolanda; Tinto, Nadia; Vuttariello, Emilia; Salvatore, F Feb 1, 1999 4324
CYPs, SNPs, and molecular diagnosis in the postgenomic era. Vilain, Eric Dec 1, 1998 1402
Influence of methodology on the detection and diagnosis of congenital analbuminemia. Lyon, Andrew W.; Meinert, Paul; Bruce, Garth A.; Laxdal, Victor A.; Salkie, Mark L. Nov 1, 1998 2754
Genetic roots of family health. SerVaas, Cory Interview Jul 1, 1995 1801
Patterns of rust infection as a function of host genetic diversity and host density in natural populations of the apomictic crucifer, Arabis holboellii. Roy, B.A. Feb 1, 1993 6239
Tracing your family's medical tree. Sep 1, 1991 1649

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