Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM

por Tüysüz, Beyhan, Gülhan Ercan-Sençicek, Adife, Özer, Emre, Göç, Nükte, Yalçınkaya, Cengiz, Bilguvar, Kaya
Publicado 2022

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

por Zubarioglu, Tanyel, Kiykim, Ertugrul, Zeybek, Cigdem Aktuglu, Cansever, Mehmet Serif, Benbir, Gulcin, Aydin, Ahmet, Yalcinkaya, Cengiz
Publicado 2015

Biallelic BICD2 Variant is a Novel Candidate for Cohen-Like Syndrome

por Caglayan, Ahmet Okay, Tuysuz, Beyhan, Gül, Ece, Alkaya, Dilek Uludag, Yalcinkaya, Cengiz, Gleeson, Joseph G., Bilguvar, Kaya, Gunel, Murat
Publicado 2022

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

por Zübarioğlu, Tanyel, Yalçınkaya, Cengiz, Oruç, Çiğdem, Kıykım, Ertuğrul, Cansever, Mehmet Şerif, Gezdirici, Alper, Yeşil, Gözde, Enver, Ece Öge, Zeybek, Çiğdem Aktuğlu
Publicado 2020

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

por Hamilton, Eline M.C., Tekturk, Pinar, Cialdella, Fia, van Rappard, Diane F., Wolf, Nicole I., Yalcinkaya, Cengiz, Çetinçelik, Ümran, Rajaee, Ahmad, Kariminejad, Ariana, Paprocka, Justyna, Yapici, Zuhal, Bošnjak, Vlatka Mejaški, van der Knaap, Marjo S.
Publicado 2018

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

por Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y, Choi, Murim, Tatli, Burak, Yalnizoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakircioğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yilmaz, Sanem, Dinçer, Alp, Johnson, Michele H, Bronen, Richard A, Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçinkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P, State, Matthew W, Günel, Murat
Publicado 2010