Title  |
Author |
Type |
Words |
45,X and SRY positive male with infertility: A case report. |
Kahraman, Cigdem Yuce; Ercoskun, Pelin; Tatar, Abdulgani; Cinkara, Neslihan; Yakar, Omer |
|
202 |
A case of complex mosaic Turner: cytogenetic/ array comparative genomic hypridisation (aCGH) discrepancy. |
Tulay, Pinar; Ergoren, Mahmut Cerkez; Alkaya, Ahmet; Akcan, Nese; Bundak, Ruveyde; Yayci, Eyup; Moca |
|
400 |
A case of Cri du Chat syndrome. |
Kahraman, Cigdem Yuce; Ercoskun, Pelin; Cinkara, Neslihan; Yakar, Omer; Tatar, Abdulgani |
|
243 |
A case of early onset breast cancer with pathogenic variation in STK11 gene. |
Keles, Zulal; Bora, Elcin |
|
257 |
A case of neurofibromatosis with a new neurofibromin mutation: c.5392C>T. |
Kocakap, Derya Beyza Sayin; Gunduz, Ozgur; Ozer, Leyla; Durak, Murat |
|
230 |
A case of Rubinstein Taybi syndrome with a very rare finding; Dandy Walker malformation. |
Cinkara, Neslihan; Kahraman, Cigdem Yuce; Ercoskun, Pelin; Yakar, Omer; Tatar, Abdulgani |
|
256 |
A case of Wolf Hirschhorn syndrome accompanied by thrombocytopenia. |
Issiz, Basak Kurucu; Genc, Gunes Cakmak; Celik, Sevim Karakas; Dursun, Ahmet |
|
220 |
A case report of Mosaic Turner's syndrome with 45,X/47,XXX karyotype. |
Kucuk, Tugce Yasar; Ekinci, Ozlem Gokce; Dirican, Ozlem Acar; Mermer, Damla Badur; Dundar, Munis; Oz |
|
295 |
A case report with 18q deletion syndrome characterized by severe skin findings. |
Dogan, Cagri; Abur, Ummet; Sanri, Aslihan; Altundag, Engin; Akar, Omer Salih; Ogur, Gonul |
|
265 |
A case with 15q11-13 duplication syndrome. |
Cavdartepe, Busra Eser; Duymus, Fahrettin; Kocak, Nadir; Cora, Tulun |
|
275 |
A case with 45,X[34]/46,X,i(X)(q10) [5] karyotype. |
Yuce, Huseyin; Eroz, Recep; Koksal, Mehmet |
|
284 |
A case with 5q microdeletion: Features overlaps with DiGeorge syndrome. |
Aliyeva, Lamiya; Kablan, Ahmet; Ozen, Yasemin; Atli, Engin; Gurkan, Hakan; Sag, Sebnem Ozemri; Temel |
|
250 |
A case with a de novo heterozygote ACTG1 variant: Genotype-phenotype correlation. |
Kablan, Ahmet; Aliyeva, Lamiya; Sag, Sebnem; Temel, Sehime Gulsun |
|
262 |
A case with a rare genetic syndrome: Marshall Smith syndrome. |
Gursoy, Semra; Guvenc, Merve Saka |
|
174 |
A case with mutation in the TNFRSF1A gene. |
Yucel, Hilal; Koc, Altug |
|
293 |
A combined oxidative phosphorylation deficiency 10 case in a non-consanguineous family. |
Sezer, Abdullah; Ergun, Mehmet Ali; Kayhan, Gulsum; Percin, Ferda Emriye |
|
268 |
A family with rare E167D mutation from Turkey with a total of four members clinically diagnosed as FMF. |
Eroz, Recep; Yuce, Huseyin; Koksal, Mehmet |
|
261 |
A family with Symphalangism syndrome. |
Tabakci, Burcu; Elcioglu, Huriye Nursel |
|
268 |
A Histogenetic View of the International Classification of Diseases for Oncology Melanomas. |
Roncati, Luca; Piscioli, Francesco |
Letter to the editor |
952 |
A mosaic Klinefelter syndrome patient with 45,X/46,XY/47,XXY karyotype. |
Baysal, Kubra; Arslan, Saide Betul; Karaduman, Neslihan Kilic; Dogan, Muhammet Ensar; Saatci, Cetin; |
|
228 |
A novel mutation in HECW2 gene resulting neurodevelopmental disorder with hypotonia, seizures, and absent language. |
Demirbas, Mustafa Hakan; Ozbudak, Pinar; Serdaroglu, Ayse; Percin, Ferda Emriye |
|
287 |
A novel mutation in WDR62 gene in a patient with autosomal recessive primary microcephaly. |
Bolat, Hilmi; Onay, Huseyin; Ozkinay, Ferda |
|
207 |
A novel mutation, 8414dupT, on BRCA2 gene of two siblings. |
Demiray, Aydin; Tokgun, Onur; Karagenc, Nedim; Akca, Hakan |
|
265 |
A patient with a balanced inversion of chromosome 11 and unbalanced inversion of chromosome 2. |
Susam, Ezgi; Cilingir, Oguz; Bas, Hasan; Aras, Beyhan Durak; Gokalp, Ebru Erzurumluoglu; Artan, Sevi |
|
279 |
A population based study: Genetics of smoking. |
Kandemis, Emine; Temel, Sehime Gulsun; Ergoren, Mahmut Cerkez |
|
270 |
A primary ovarian failure case with de novo t(X;10) translocation. |
Kok, Gizem; Kalyoncu, Anil; Solmaz, Asli Ece; Cogulu, Muhsin Ozgur; Akin, Haluk |
|
231 |
A rare AMH variant in a case with persistent Mullerian Duct syndrome. |
Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder |
|
255 |
A rare HNF1A gene mutation in a Turkish family with maturity-onset diabetes of the young (MODY). |
Moballegh, Asef; Dogan, Ozlem; Kargun, Sinem; Yilmaz, Nuster; Manguoglu, Esra |
|
265 |
An approach to amenorrhea with three cases. |
Yilmaz, Busra; Genc, Gunes Cakmak; Celikmakas, Ayca; Issiz, Basak Kurucu; Dursun, Ahmet |
|
278 |
Antibiotic Resistance: A Global Concern; Current Situation and Action Plans. |
Soltani, Jafar; Versporten, Ann; Goossens, Herman |
Editorial |
1741 |
Approach to dysmorphic patient. |
Utine, Gulen Eda |
|
259 |
Atypical case of Angelman syndrome in infant with 45,X,der(15)t(y;15)(q12;q10) karyotype. |
Kazimli, Ulviyya; Gunes, Meltem Cerrah; Dirican, Ozlem Acar; Kandemir, Nefise; Dogan, Muhammet Ensar |
|
228 |
Autism and genetic testing. |
Altiner, Sule |
|
228 |
Benign Paroxysmal Positional Vertigo Following Electroconvulsive Therapy. |
Kansu, Leyla |
Case study |
1603 |
Brain volume differences in Huntington disease using MRI. |
Acer, Niyazi; Baysal, Hasan; Dundar, Mehmet Sait; Gultekin, Murat; Donmez, Halil |
|
191 |
Cardiovascular Diseases and Genetics. |
Gurkan, Hakan |
|
229 |
cf-DNA test applications. |
Basaran, Seher |
|
280 |
Characterization of a novel frameshift mutation in the TRPS1 gene as a cause of Trichorhinophalengeal syndrome type 1 in a Cypriot Heritage Family. |
Akcan, Nese; Betmezoglu, Meryem; Manara, Elena; Paolacci, Stefano; Temel, Sahime G.; Bundak, Ruveyde |
|
340 |
Chronic tinnitus and BDNF/GDNF promoter methylations. |
Boyacioglu, Seda Orenay; Caliskan, Metin; Boyacioglu, Olcay; Coskunoglu, Aysun; Bozkurt, Gokay; Cam, |
|
305 |
Chrysin, a natural flavonoid found in apple peel, induces mitochondrial reactive oxygen species with accompanying apoptosis in colon cancer cells. |
Cevik, Muhammer Ozgur; Sakai, Toshiyuki |
|
280 |
CHST3-related multiple dislocations and severe short stature in 3 families. |
Duz, Mehmet Bugrahan; Topak, Ali |
|
285 |
Clinical and molecular findings of neurofibromatosis type 1: Identification of three novel mutations of the NF1 gene. |
Aymelek, Huri Sema; Ozcan, Aysegul |
|
221 |
Clinical Effects of Fine-Tuning: Thyroid Hormone Replacement. |
Hacioglu, Aysa; Karaca, Zuleyha |
Report |
1379 |
Coexistance of tetrasomy X and taurodontism: A case report. |
Baser, Burak; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Sezgin, Ilhan |
|
251 |
Combination treatment of usnic acid and sorafenib on hepatocellular carcinoma. |
Yurdacan, Beste; Egeli, Unal; Eskiler, Gamze Guney; Eryilmaz, Isil Ezgi; Cecener, Gulsah; Tunca, Ber |
Disease/Disorder overview |
329 |
Comparison of expression levels of PER1, PER2 and PER3 genes at insomnia diagnosed individuals and night shift working health care personnel. |
Emekli, Rabia; Bayramov, Ruslan; Akalin, Hilal; Ismailogullari, Sevda; Dundar, Munis |
|
284 |
Cornelia de Lange syndrome with a novel NIPBL mutation and a 10q11.22-q11.23 deletion. |
Ozturk, Ozden; Saygili, Hamide; Bolu, Semih; Cevik, Muhammer Ozgur; Taskin, Bayram; Taslidere, Hasan |
|
311 |
Current approaches in the breast cancer. |
Akin, Haluk |
|
281 |
Current developments in Huntington disease. |
Sarilar, Ayse Caglar |
|
262 |
CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of three novel mutations. |
Ates, Esra Arslan; Onay, Huseyin; Ertam, Ilgen; Ataman, Esra; Hazan, Filiz; Durmaz, Asude; Dereli, T |
|
304 |
Cytokine gene polymorphism frequencies in Turkish population with comparisons to other populations: A meta-analysis. |
Pehlivan, Sacide; Ozdilli, Kursat; Ogret, Yeliz D.; Oguz, Rusdu; Senturk, Hayriye; Oguz, Fatma Savra |
|
322 |
De novo t(X;5) in a patient with premature ovarian failure and recurrent vertebrae fractures. |
Aynaci, Sabri; Kocagil, Sinem; Tosumoglu, Efsun; Panal, Gulcin Sungar; Cilingir, Oguz; Aras, Beyhan |
|
300 |
Design and analysis of an effective antigen against tetanus by in-silico method. |
Valipour, Ebrahim |
|
259 |
Detection of Duchenne Muscular Dystrophy carriers with quantitative fluorescent polymerase chain reaction. |
Kuskucu, Aysegul; Buyuru, Nur; Oflazer, Piraye; Hacihanefioglu, Seniha |
|
303 |
Determination of Adiponectin, Tumor Necrosis Factor-Alpha, and Adhesion Molecules in Alzheimer's Disease. |
Savas, Sumru; Guler, Burcu; Sarac, Fulden |
Report |
3799 |
Determination of senescence susceptibilities of adipose tissue-originated mesenchymal stem cells from obese and non-obese mouse models. |
Murat, Aysegul; Simsek, Ahmet; Ozkul, Yusuf; Durukan, Sebahat Melike; Acar, Mustafa Burak; Ozcan, Se |
|
294 |
Diffusion-Weighted Magnetic Resonance Imaging Value in the Detection and Differentiation of Bone Tumors and Tumor-Like Lesions. |
Emara, Mostafa M.; Nada, Ayman; Hawana, Maged A.; Elazab, Mohamed S.; Shokry, Ahmed Mohamed |
Report |
3632 |
Dissecting the molecular mechanisms of complex diseases through a pathway and network oriented analysis of -omics data. |
Gungor, Burcu Bakir |
|
256 |
Distal 10p duplication at distal 18q deletion syndrome. |
Turan, Betul; Eroz, Recep; Yuce, Huseyin |
|
295 |
DNAJC10 (ERDJ5) is a novel biomarker candidate in breast cancer. |
Acun, Tolga; Senses, Kerem Mert |
|
269 |
Do functional variants of MIF and MBL genes influence outcome in patients underwent autologous stem cell transplantation for multiple myeloma? |
Pehlivan, Sacide; Pehlivan, Mustafa; Nursal, Ayse Feyda; Gundes, Ilknur; Oyaci, Yasemin; Kivanc, Dem |
|
325 |
Does BRCA gene mutation affect comorbidity in patients with breast cancer? |
Topaloglu, Ulas Serkan; Kiraz, Aslihan |
|
254 |
Effect of metformin on multipotent stromal cells. |
Omerli, Fatih; Gokduman, Eda Mert; Acar, Mustafa Burak; Akalin, Hilal; Galderisi, Umberto; Ozcan, Se |
|
258 |
Efficacy of N-acetyl Cysteine in Patients with Dyspepsia with Negative Helicobacter pylori Infection. |
Hajavi, Nasser; Far, Khatereh Isazadeh; Nokhah, Moharram; Habibzadeh, Afshin; Hemmati, Mehdi; Lu, Cr |
Report |
2850 |
Emerging Infections and Future Threats. |
Petrosillo, Nicola |
Report |
4341 |
Epidermolysis bullosa: Clinical phenotypes and genetics. |
Gunduz, C. Nur Semerci |
|
244 |
Epigenetic factors and prenatal development. |
Durmaz, Asude |
|
355 |
Epilepsy genetics: Clinical and molecular diagnostic algorithms. |
Cavdarli, Busranur |
|
368 |
Evaluation of Obesity with Vitamin D Levels and Related Parameters. |
Kayacan, Aybike Gizem; Surmeli, Neslihan; Sogut, Mehtap Unlu; Yilmaz, Elanur |
Report |
4667 |
Features of electroencephalography in Huntington disease: Evaluation of genotype and electrophysiology of one family. |
Baydemir, Recep; Gultekin, Murat |
Clinical report |
211 |
Fifteen year story of a balanced translocation t(2;7)(p21;p15): Unraveling the phenotype of Saethre-Chotzen/Robinow-Sarouf syndrome or still undiagnosed skeletal dysplasia after next generation sequencing? |
Temel, Sehime Gulsun; Turkgenc, Burcu; Aguilar, Raul Pina; Curral, Benjamin; Lowther, Chelsea; Wilch |
|
286 |
Filamin B and CD13 Are Components of Senescent Secretomes That May Be Involved in Primary (Stress Induced) and Paracrine Senescence of Mesenchymal Stromal Cells. |
Squillaro, Tiziana; Ozcan, Servet; Alessio, Nicola; Acar, Mustafa Burak; Bernardo, Giovannii; Melone |
Report |
4139 |
Gene expression research in children with attention deficit hyperactivity disorder. |
Akalin, Hilal; Erdem, Yakut; Ozmen, Sevgi; Dogan, Muhammet Ensar; Dundar, Munis; Ozkul, Yusuf |
|
310 |
Genetic approach to the hearing loss. |
Subasioglu, Asli |
|
545 |
Genetic factors in male infertility. |
Gokce, Nuriye; Akalin, Hilal; Mermer, Damla Badur; Basgoz, Neslihan; Dogan, Muhammet Ensar; Ekmekcio |
|
303 |
Genetic fitness: True story. |
Ergoren, Mahmut Cerkez; Dundar, Munis; Temel, Sehime Gulsun |
|
225 |
Genetics of eye. |
Ercal, Derya |
|
350 |
Glutaric aciduria type 2: A case report. |
Yildiz, Ayca; Bora, Elcin |
|
270 |
Heritable connective tissue disorders and accompanying cardiovascular abnormalities. |
Temel, Sehime Gulsun |
|
214 |
Homozygous terminal deletion on 4q35.2 in a child with developmental disability and healthy parents with heterozygous deletion in the same region. |
Mercan, Tugba Karaman; Clarck, Ozden Altiok; Nur, Banu; Mihci, Ercan; Karauzum, Sibel Berker |
|
313 |
Human Anthrax in Kazakhstan From 2016 to 2018. |
Maukayeva, Saule; Nuralinova, Gulnar; Isembayeva, Karina |
Report |
2423 |
Identification and frequency of CFTR gene variants. |
Kenanoglu, Sercan; Boz, Mehmet; Basgoz, Neslihan; Gokce, Nuriye; Mermer, Damla Badur; Onal, Muge Gul |
|
317 |
Identification of a Novel Mitochondrial DNA Sequence Variation within the Human Mitochondrial DNA Control Region in a Population of Aegean Population. |
Koseler, Aylin; Temel, Sehime Gulsun; Ergoren, Mahmut Cerkez |
Report |
3689 |
Importance of functional genomics in medical genetics. |
Gulec, Cagri |
|
264 |
Inborn errors of metabolic diseases with dysmorphological findings. |
Cogulu, Ozgur |
|
375 |
Investigation of CYP2D6 variants in children with attention deficit and hyperactivity disorder. |
Akalin, Hilal; Erdem, Yakut; Ozmen, Sevgi; Dogan, Muhammet Ensar; Dundar, Munis; Ozkul, Yusuf |
|
314 |
Investigation of hematological malignancies with cytogenetic and fluorescent in situ hybridization methods. |
Mermer, Damla Badur; Akalin, Hilal; Gokce, Nuriye; Basgoz, Neslihan; Kaynar, Leylagul; Saatci, Cetin |
|
287 |
Investigation of LC3 gene expression in patients with coronary artery disease. |
Topaloglu, Tugba; Tahtasakal, Reyhan; Bayramov, Kezban Korkmaz; Emirogullari, Omer Naci; Sener, Elif |
|
300 |
Investigation of the polymorphisms of deleted in azoospermia like (DAZL), 5-metylentetrahydrofolate reductase (MTHFR) and follicle stimulating hormone receptor (FSHR) genes in male infertility. |
Kavasoglu, Zeynep; Zeyneloglu, Hulusi Bulent; Sahin, Feride Iffet |
|
259 |
Is it 21pstk? A case of a hidden trisomy 20p arisen from the balanced translocations. |
Akar, Omer Salih; Abur, Ummet; Altundag, Engin; Dogan, Cagri; Sanri, Aslihan; Ogur, Methiye Gonul |
|
306 |
JAK2 gene V617F mutation analysis in myeloproliferative diseases. |
Aynekin, Busra; Gokce, Nuriye; Eser, Bulent; Tascioglu, Nazife; Ozkul, Yusuf; Saatci, Cetin; Dundar, |
|
295 |
Joubert Syndrome: A novel mutation of TCTN3 gene. |
Duymus, Fahrettin; Cavdartepe, Busra Eser; Kocak, Nadir; Cora, Tulun |
|
254 |
Kleefstra syndrome (9q34.3 microdeletion syndrome): A case report. |
Saygili, Hamide; Aydin, Hilal; Ozturk, Ozden; Cevik, Muhammer Ozgur; Taslidere, Hasan; Bagis, Haydar |
|
299 |
Level of Serum Adiponectin in Sjogren's Syndrome. |
Dogan, Kubra; Urhan, Muhammed Emre; Yildiz, Seymanur; Derin, Emin; Sahin, Ali; Dogan, Halef Okan |
Report |
3114 |
Levothyroxine Dosage Determination According to Body Mass Index (BMI) After Total Thyroidectomy. |
Maghsudi, Hemmat; Toomatari, Seyed Ehsan Mousavai; Mohammadzade, Naser Agha; Pour, Farzad Najaf; Sal |
Report |
3843 |
Microfluidic sperm sorting chip usage as an alternative method in recurrent IVF failure patients. |
Yildiz, Koray; Yuksel, Sengul |
|
273 |
Molecular analysis of SMN1 and SMN2 genes with the patients pre-diagnosed with spinal muscular atrophy. |
Karasu, Nilgun; Dogan, Muhammet Ensar; Yildirim, Abdulbaki; Taskin, Duygu; Ozkul, Yusuf; Saatci, Cet |
|
292 |
Molecular cytogenetic markers in hematological malignancies. |
Durmaz, Burak |
|
256 |
Molecular findings in prenatal array karyotyping: Clues and implications for reporting. |
Yararbas, Kanay; Uslu, Bugu Blane |
|
260 |
Molecular pathological evaluation of Alport syndrome. |
Basgoz, Neslihan; Dogan, Muhammet Ensar; Gokce, Nuriye; Onal, Muge Gulcihan; Sipahioglu, Murat Hayri |
|
316 |
Nephrotic Syndrome and Genetics. |
Toksoy, Guven |
|
201 |
Neurofibromatosis type rare form: 17q11.2 microdeletion syndrome. |
Bagis, Haydar; Saygili, Hamide; Kokcam, Ibrahim; Ozturk, Ozden; Taslidere, Hasan; Cevik, Muhammer Oz |
|
307 |
Novel gene identification via whole exome sequencing in patients diagnosed with primary autosomal recessive primary microcephaly. |
Caglayan, Ahmet Okay |
|
161 |
Orofaciodigital syndrome XVII: A rare case report. |
Yakar, Omer; Kahraman, Cigdem Yuce; Ercoskun, Pelin; Cinkara, Neslihan; Tatar, Abdulgani |
|
275 |
Osteogenesis imperfecta type I caused by a novel mutation of the COL1A1 gene in Turkish family. |
Kekilli, Arda; Cankaya, Tufan |
|
252 |
Our experience in BRCA-associated hereditary breast and ovarian cancer syndrome. |
Dundar, Burcu; Yuksel, Elcin; Ayaz, Akif |
|
189 |
Phenotypic contradictions: Dual effect. |
Percin, Ferda Emriye |
|
250 |
Phenytoin-Induced Gingival Enlargement. |
Bakshi, Satvinder Singh |
Case study |
405 |
Physical Examination Signs of Inspection and Medical Eponyms in Pericarditis Part I: 1761 to 1852. |
Ye, Fan; Tekiner, Halil; Yale, Eileen S.; Mazza, Joseph J.; Yale, Steven |
Report |
6071 |
Physical Signs of Inspection and Medical Eponyms of Pericarditis Part II: 1864 to 1895. |
Ye, Fan; Tekiner, Halil; Yale, Eileen S.; Mazza, Joseph J.; Yale, Steven |
Report |
4117 |
Precision medicine and genetics. |
Sahin, Feride; Celik, Zerrin Yilmaz; Terzi, Yunus Kasim |
|
667 |
Predicting the molecular phenotype of familial amyotrophic lateral sclerosis: Computational studies of the rare SOD1 A4T mutant protein. |
Terali, Kerem; Diker, Sevda; Arsal, Pinar Gelener |
|
273 |
Predictive testing approach in Huntington disease. |
Karabulut, Halil Gurhan |
|
227 |
Prostate Cancer Screening and Health Beliefs: A Turkish Study of Male Adults. |
Bilgili, Naile; Kitis, Yeter |
Report |
5105 |
Pyruvate kinase deficiency in four children with two unpublished mutations. |
Unal, Ekrem; Gok, Veysel; Roy, Noemi B.A.; Proven, Melanie; Hipkiss, Ria; Howard, Kieran; Ozcan, Alp |
|
351 |
Rare and extremely unusual presentation of glutaric aciduria type I in a 35-year-old woman. |
Gelener, Pinar; Tuncel, Gulten; Manara, Elena; Paolacci, Stefano; Tuzlali, Hatice; Severino, Marisav |
|
321 |
Rare Complications of Silica Dust Exposure. |
Shalaby, Alaa El-Dein Omar; Kamel, Khaled Mahmoud; Al-Halfawy, Ahmad Serag El-Dein; Amin, Hassan Mah |
Case study |
1065 |
Retrospective evaluation of pathogenic copy number variations detected via chromosomal microarray analysis. |
Ceylan, Ahmet Cevdet |
|
237 |
Ribosomopathies. |
Akarsu, Nurten |
|
275 |
Role of whole exome sequencing in diagnostic approach of neuroferritinopathies: A new family with C19Orf12 gene deficiency. |
Kose, Melis; Aykut, Ayca; Durmaz, Asude; Cogulu, Ozgur |
|
288 |
Root Canal File Stick Into the Epiglottis: A Dangerous Complication of an Endodontic Procedure. |
Kokoglu, Kerem; Aslan, Tugrul; Yuce, Imdat; Cagli, Sedat |
Case study |
1461 |
Safety and Effectiveness of Thrombolytic Therapy Compared with Standard Anticoagulation in Subjects with Submassive Pulmonary Embolism. |
Crimen, Pinar; Alizoroglu, Dursun; Unlu, Mehtnet; Kirakli, Cenk; Ediboglu, Ozletn; Erbaycu, Ahmet Et |
Report |
4095 |
Screening molecular markers in various hematological malignancies. |
Akyurek, Esra; Tascioglu, Nazife; Akalin, Hilal; Saatci, Cetin; Ozkul, Yusuf; Ozcan, Alper; Kaynar, |
|
277 |
Spectrum of PAH gene variants in phenylketonuria patients. |
Siniksaran, Betul Seyhan; Boz, Mehmet; Dogan, Muhammet Ensar; Ozkul, Yusuf; Dundar, Munis |
|
286 |
Successful Management of Post-traumatic High-Flow Priapism by Super-Selective Coil Embolization: A Case Report. |
El Salam, Mohamed Ahmed Abd; Mashhour, Shady Nabil; Azzazi, Omar Abdulsalam |
Case study |
2097 |
Targeted gene panel sequencing for hereditary kidney diseases: Efficiently detects candidate pathogenic variants related with these disorders. |
Kaya, Niyazi; Alkaya, Ahmet; Aliyeva, Lamiya; Kaplan, Ahmet; Pirim, Dilek; Yildirim, Elif Uz; Sag, S |
|
323 |
Testing for genetic causes of infertility: NGS based infertility panels. |
Ozer, Leyla; Aydin, Merve; Aktuna, Suleyman; Unsal, Evrim; Baltaci, Volkan |
|
260 |
The clinical significance of HOTAIR/miR-217 axis on renal cell carcinoma. |
Ergun, Sercan; Altay, Diler Us; Guney, Serkan |
|
273 |
The effects of human chorionic gonadotropin-based hormonal therapy on the expression levels of proliferating cell nuclear antigen. |
Celtikci, Basak; Tangal, Semih; Ozer, Leyla |
|
292 |
The effects of nobiletin through TLR9 signaling pathway in prostate cancer. |
Ozkan, Asuman Deveci; Kaleli, Suleyman; Onen, Hacer Ilke; Yigin, Aysel Kalayci; Akdogan, Mehmet |
|
338 |
The first Turkish patient with Pierpont syndrome and TBL1XR1 mutation. |
Hazan, Filiz; Turkyilmaz, Ayberk |
|
240 |
The Impact of Lymphovascular Invasion on Recurrence-Free Survival in Patients with High-Risk Stage II Colorectal Cancer Treated with Adjuvant Therapy. |
Bozkurt, Oktay; Firat, Sedat Tank; Dogan, Ender; Inane, Mevlude; Deniz, Kemal; Zararsiz, Gozde Ertur |
Report |
3395 |
The importance of dysmorphology in genetic diagnosis-a case report with index finger anomaly. |
Randa, Nadide Cemre; Erkal, Ozgur; Kalkan, Tarkan |
|
243 |
The role of a rare variant in Canavan disease: An in silico follow-up. |
Fahrioglu, Umut; Terali, Kerem |
|
279 |
The role of angiogenesis related Rheb, HIF-1 alpha, CA9 and TSP-1 genes in kidney cancer. |
Tigli, Hulya; Tigli, Hatice; Sanli, Oner; Tefik, Tzevat; Buyru, Nur |
|
326 |
The role of cytokines in the pathophysiology of chronic tonsillitis. |
Babakurban, Seda Turkoglu; Akad, Selin; Terzi, Yunus Kasim; Erbek, Selim Sermed; Sahin, Feride Iffet |
|
249 |
The role of NGS method in the diagnosis of periodic fever syndrome. |
Koseoglu, Abdullah Huseyin; Yuksel, Elcin; Dogru, Zeynep; Seyhan, Serhat |
|
161 |
The role of SEPTIN 9 (SEPT9) gene DNA methylation on bladder cancer. |
Varol, Nuray; Keles, Ibrahim; Yildiz, Handan |
|
247 |
The utility of reverse phenotyping with Whole-Exome Sequencing in an undiagnosed infant with neurological symptoms. |
Emecen, Durdugul Ayyildiz; Isik, Esra; Kose, Melis; Atik, Tahir; Ozkinay, Ferda |
|
283 |
Tick in Both External Auditory Canals: An Extremely Rare Case Report. |
Avci, Deniz |
Case study |
1425 |
Two diseases associated with chromosome 19 in an infertile male patient. |
Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk |
|
257 |
Two siblings with a rare diagnosis, Raymond type X-linked syndromic mental retardation. |
Sezer, Abdullah; Savas, Ayse; Kazan, Hasan Huseyin; Percin, Ferda Emriye |
|
297 |
Werner syndrome: Two siblings with a novel splicing mutation in WRN gene. |
Solmaz, Asli Ece; Onay, Huseyin |
|
225 |
Whole and clinical exome sequencing analysis for diagnosis of epidermolysis bullosa. |
Uyanik, Bulent; Canbek, Sezin; Tas, Betul |
|
249 |
Zinc, Vitamin D, and TSH Levels in Patients with Vitiligo. |
Saniee, Sara SaniSara; Zare, Armaghan Ghareaghaji; RadmehrEe, Afsaneh; Radmehr, Afsaneh |
Report |
3055 |
Zoledronic acid effectiveness and estrogen receptor status. |
Eskiler, Gamze Guney; Ozkan, Asuman Deveci |
|
277 |