Canlyniadau Chwilio - Yalcinkaya, Cengiz

Infantile Refsum Disease: Case Report gan Choksi, Vaishali, Hoeffner, Ellen, Karaarslan, Ercan, Yalcinkaya, Cengiz, Cakirer, Sinan

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Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases gan ELMALI, Ayşe Deniz, ÇETİNÇELİK, Ümran, IŞLAK, Civan, UZUN ADATEPE, Nurten, KARAALİ SAVRUN, Feray, YALÇINKAYA, Cengiz

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Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22q(tel) gan Topçu, Meral, Gartioux, Corine, Ribierre, Florence, Yalçinkaya, Cengiz, Tokus, Erem, Öztekin, Nese, Beckmann, Jacques S., Ozguc, Meral, Seboun, Eric

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Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria gan Zübarioğlu, Tanyel, Yalçınkaya, Cengiz, Oruç, Çiğdem, Kıykım, Ertuğrul, Cansever, Mehmet Şerif, Gezdirici, Alper, Yeşil, Gözde, Enver, Ece Öge, Zeybek, Çiğdem Aktuğlu

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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease gan Bilir, Birdal, Yapici, Zuhal, Yalcinkaya, Cengiz, Baris, Ibrahim, Carvalho, Claudia M. B., Bartnik, Magdalena, Ozes, Burcak, Eraksoy, Mefkure, Lupski, James R., Battaloglu, Esra

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Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation gan Tuysuz, Beyhan, Pehlivan, Davut, Özkök, Ahmet, Jhangiani, Shalini, Yalcinkaya, Cengiz, Zeybek, Çiğdem Aktuğlu, Muzny, Donna Marie, Lupski, James R., Gibbs, Richard, Jaeken, Jaak

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Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants gan 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.

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Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration gan Bilguvar, Kaya, Tyagi, Navneet K., Ozkara, Cigdem, Tuysuz, Beyhan, Bakircioglu, Mehmet, Choi, Murim, Delil, Sakir, Caglayan, Ahmet O., Baranoski, Jacob F., Erturk, Ozdem, Yalcinkaya, Cengiz, Karacorlu, Murat, Dincer, Alp, Johnson, Michele H., Mane, Shrikant, Chandra, Sreeganga S., Louvi, Angeliki, Boggon, Titus J., Lifton, Richard P., Horwich, Arthur L., Gunel, Murat

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Recessive LAMC3 mutations cause malformations of occipital cortical development gan Barak, Tanyeri, Kwan, Kenneth Y, Louvi, Angeliki, Demirbilek, Veysi, Saygı, Serap, Tüysüz, Beyhan, Choi, Murim, Boyacı, Hüseyin, Doerschner, Katja, Zhu, Ying, Kaymakçalan, Hande, Yılmaz, Saliha, Bakırcıoğlu, Mehmet, Çağlayan, Ahmet Okay, Öztürk, Ali Kemal, Yasuno, Katsuhito, Brunken, William J, Atalar, Ergin, Yalçınkaya, Cengiz, Dinçer, Alp, Bronen, Richard A, Mane, Shrikant, Özçelik, Tayfun, Lifton, Richard P, Šestan, Nenad, Bilgüvar, Kaya, Günel, Murat

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Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations gan 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

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CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration gan Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Rasim Ozgur, Abdellateef, Mostafa, Caglar, Caner, Kasher, Paul R., Cazemier, J. Leonie, Weterman, Marian A., Cantagrel, Vincent, Cai, Na, Zweier, Christiane, Altunoglu, Umut, Satkin, N. Bilge, Aktar, Fesih, Tuysuz, Beyhan, Yalcinkaya, Cengiz, Caksen, Huseyin, Bilguvar, Kaya, Fu, Xiang-Dong, Trotta, Christopher, Gabriel, Stacey, Reis, André, Gunel, Murat, Baas, Frank, Gleeson, Joseph G.

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