Hereditary Chin Trembling

por Işikay, Sedat
Publicado 2020

Late Diagnosis of Pyridoxine-Dependent Epilepsy in Two Adolescent Siblings

por Işıkay, Sedat
Publicado 2021

Botulinum Toxin Type A for the Treatment of Limb Myokymia: Experiences of Three Children

por Işıkay, Sedat
Publicado 2022

Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene

por Işıkay, Sedat, Şirikçi, Akif
Publicado 2018

Multiple Cerebral Hemorrhages during the Course of Guillain–Barre Syndrome: A Case Report

por IŞIKAY, Sedat, ŞİRİKÇİ, Akif
Publicado 2020

Oxcarbazepine May Be Useful in Sydenham Chorea

por Işıkay, Sedat, Yılmaz, Kutluhan
Publicado 2021

Pseudohypoparathyroidism Presenting with Ventricular Arrhythmia: A Case Report

por Işıkay, Sedat, Akdemir, İlyas, Yılmaz, Kutluhan
Publicado 2012

Prevalence of Celiac Disease in Turkish Children with Idiopathic Epilepsy

por Işikay, Sedat, Hizli, Şamil, Yilmaz, Kutluhan
Publicado 2014

A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion

por Işıkay, Sedat, Başpınar, Osman, Yılmaz, Kutluhan
Publicado 2014

Childhood Pineal Glioblastoma: Case Report

por Atalay, Tugay, Işıkay, Sedat, Güzel, Ebru, Sarı, İbrahim, Güzel, Aslan
Publicado 2021

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

por Karaca, Ender, Posey, Jennifer E., Akdemir, Zeynep Coban, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.
Publicado 2018

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

por Marafi, Dana, Mitani, Tadahiro, Isikay, Sedat, Hertecant, Jozef, Almannai, Mohammed, Manickam, Kandamurugu, Abou Jamra, Rami, El‐Hattab, Ayman W., Rajah, Jaishen, Fatih, Jawid M., Du, Haowei, Karaca, Ender, Bayram, Yavuz, Punetha, Jaya, Rosenfeld, Jill A., Jhangiani, Shalini N., Boerwinkle, Eric, Akdemir, Zeynep C., Erdin, Serkan, Hunter, Jill V., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.
Publicado 2020

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

por Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.
Publicado 2022

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

por Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R., Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, De Jonghe, Peter
Publicado 2019