Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis

por Demircioğlu, Fatih, Aydın, Hilal, Erkoçoğlu, Mustafa, Önay, Hüseyin, Dağıstan, Emine
Publicado 2017

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

por Koçyiğit, Cemil, Sarıtaş, Serdar, Çatlı, Gönül, Onay, Hüseyin, Dündar, Bumin Nuri
Publicado 2016

Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis

por Sahin, Ozlem Atan, Goksen, Damla, Ozpinar, Aysel, Serdar, Muhittin, Onay, Huseyin
Publicado 2017

TGFB1 and LAMA1 gene polymorphisms in children with high myopia

por Biler, Elif Demirkilinc, Ilim, Orhan, Palamar, Melis, Onay, Huseyin, Uretmen, Onder
Publicado 2018

Mannose-Binding Lectin Gene Polymorphism and Chronic Hepatitis B Infection in Children

por Erdemir, Gulin, Ozkan, Tanju B., Ozgur, Taner, Budak, Ferah, Kilic, Sara S., Onay, Huseyin
Publicado 2015

A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome

por Unal, Edip, Yıldırım, Ruken, Tekin, Suat, Demir, Vasfiye, Onay, Hüseyin, Haspolat, Yusuf Kenan
Publicado 2018

Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity

por Öztürk, Taylan, Karataş Yiğitaslan, Ezgi, Teke Kısa, Pelin, Onay, Hüseyin, Saatci, Ali Osman
Publicado 2021

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

por Atik, Tahir, Onay, Huseyin, Aykut, Ayca, Bademci, Guney, Kirazli, Tayfun, Tekin, Mustafa, Ozkinay, Ferda
Publicado 2015

Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene

por Unal, Edip, Yıldırım, Ruken, Taş, Funda Feryal, Demir, Vasfiye, Onay, Hüseyin, Haspolat, Yusuf Kenan
Publicado 2018

Molecular Genetic Analysis of Survival Motor Neuron Gene in 460 Turkish Cases with Suspicious Spinal Muscular Atrophy Disease

por RASHNONEJAD, Afrooz, ONAY, Huseyin, ATIK, Tahir, ATAN SAHIN, Ozlem, GOKBEN, Sarenur, TEKGUL, Hasan, OZKINAY, Ferda
Publicado 2016

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

por Özalkak, Şervan, Demiral, Meliha, Ünal, Edip, Taş, Funda Feryal, Onay, Hüseyin, Demirbilek, Hüseyin, Özbek, Mehmet Nuri
Publicado 2023

Comparison of artificial intelligence vs. junior dentists’ diagnostic performance based on caries and periapical infection detection on panoramic images

por Güneç, Hüseyin Gürkan, Ürkmez, Elif Şeyda, Danaci, Aleyna, Dilmaç, Eda, Onay, Hüseyin Hamza, Cesur Aydin, Kader
Publicado 2023

A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome

por Hazan, Filiz, Karaca, Emin, Koker, Sultan Aydin, Korkmaz, Huseyin Anil, Mese, Timur, Onay, Huseyin, Ozkinay, Ferda
Publicado 2013

A novel mutation and in vivo confocal microscopic findings in Fabry disease

por Degirmenci, Cumali, Yilmaz, Suzan Guven, Onay, Huseyin, Palamar, Melis, Ucar, Sema Kalkan, Kayikcioglu, Meral, Coker, Mahmut
Publicado 2017

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

por Özen, Samim, Atik, Tahir, Korkmaz, Özlem, Onay, Hüseyin, Gökşen, Damla, Özkınay, Ferda, Çoğulu, Özgür, Darcan, Şükran
Publicado 2020

Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics

por Aykut, Ayça, Özen, Samim, Gökşen, Damla, Ata, Aysun, Onay, Hüseyin, Atik, Tahir, Darcan, Şükran, Özkinay, Ferda
Publicado 2020

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

por Işık, Esra, Onay, Hüseyin, Atik, Tahir, Solmaz, Aslı Ece, Özen, Samim, Çoğulu, Özgür, Darcan, Şükran, Özkınay, Ferda
Publicado 2020

A Remarkable Coexistence of Systemic Capillary Leak Syndrome and Diabetes in an 11-Year-Old Boy: A Case Report and Review of the Literature

por Ata, Aysun, Özen, Samim, Gökşen, Damla, Edeer Karaca, Neslihan, Aksu, Güzide, Kütükçüler, Necil, Onay, Hüseyin, Darcan, Şükran
Publicado 2020

Izmir Mental Health Cohort for Gene-Environment Interaction in Psychosis (TürkSch): Assessment of the Extended and Transdiagnostic Psychosis Phenotype and Analysis of Attrition in...

por Kırlı, Umut, Binbay, Tolga, Elbi, Hayriye, Drukker, Marjan, Kayahan, Bülent, Özkınay, Ferda, Onay, Hüseyin, Alptekin, Köksal, van Os, Jim
Publicado 2019

A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, “1033G>T”, at the SERPING1 gene

por Ozkars, Mehmet Yasar, Keskın, Ozlem, Bayram, Nazan, Onay, Huseyin, Keskın, Mehmet, Bayram, Hasan, Sahın, Yavuz, Küçükosmanoğlu, Ercan, Kırık, Serkan
Publicado 2019