A rare sex chromosome aneuploidy: 48,XXYY syndrome

Por Atik, Tahir, Çoğulu, Özgür, Özkınay, Ferda
Publicado no Turk Pediatri Ars (2016)

Whole-exome sequencing and its impact in hereditary hearing loss

Por ATIK, TAHIR, BADEMCI, GUNEY, DIAZ-HORTA, OSCAR, BLANTON, SUSAN H., TEKIN, MUSTAFA
Publicado no Genet Res (Camb) (2015)

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 no PLoS One (2015)

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 no Iran J Child Neurol (2016)

Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis

Por Şahin Atik, Sevinç, Solmaz, Aslı Ece, Öztaş, Zafer, Eğrilmez, Emine Deniz, Uğurlu, Şeyda, Atik, Tahir, Afrashi, Filiz
Publicado no Turk J Ophthalmol (2017)

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

Por Çatlı, Gönül, Alparslan, Caner, Can, P. Şule, Akbay, Sinem, Kelekçi, Sefa, Atik, Tahir, Özyılmaz, Berk, Dündar, Bumin N.
Publicado no J Clin Res Pediatr Endocrinol (2015)

Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy

Por Altay, Canan, Seçil, Mustafa, Demir, Tevfik, Atik, Tahir, Akıncı, Gülçin, Kutbay, Nilüfer Özdemir, Temeloğlu, Ela Keskin, Şimşir, Ilgın Yıldırım, Özışık, Seçil, Demir, Leyla, Eren, Erdal, Tuna, Emine Burçin, Aytaç, Hasibe, Onay, Hüseyin, Akıncı, Barış
Publicado no Diagn Interv Radiol (2017)

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Por Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Alanay, Yasemin, Kayserili, Hulya, Thiel, Steffen, Tekin, Mustafa
Publicado no Orphanet J Rare Dis (2015)

Diffuse hypomyelination is not obligate for POLR3-related disorders

Por La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Publicado no Neurology (2016)

Novel Pathogenic Variants Underlie SLC26A4-related Hearing Loss in a Multiethnic Cohort

Por Cengiz, Filiz Basak, Yilmazer, Rasim, Olgun, Levent, Sennaroglu, Levent, Kirazli, Tayfun, Alper, Hudaver, Olgun, Yuksel, Incesulu, Armagan, Atik, Tahir, Hernandez, Fabiola Huesca, Domínguez-Aburto, Juan, González-Rosado, Garly, Hernandez-Zamora, Edgar, de la Luz Arenas-Sordo, Maria, Menendez, Ibis, Orhan, Kadir Serkan, Avci, Hakan, Mahdieh, Nejat, Bonyadi, Mortaza, Foster, Joseph, Duman, Duygu, Ozkinay, Ferda, Blanton, Susan H., Bademci, Guney, Tekin, Mustafa
Publicado no Int J Pediatr Otorhinolaryngol (2017)