A. I. Polat

发表

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Clinical features and psychomotor development at one year of age in infants born from a mother with chorioamnionitis.

E. Özer, U. Yiş, A. Polat, 2014 .

Parieto-occipital encephalomalacia in children; clinical and electrophysiological features of twenty-seven cases

U. Yiş, A. Polat, S. Hiz, 2015, Journal of pediatric neurosciences.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

S. Yılmaz, A. Engel, B. Anlar, 2017, Journal of child neurology.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

C. Boerkoel, K. Choi, T. Hunley, 2015, Clinical immunology.

Intravenous Levetiracetam for Treatment of Seizures in Term and Preterm Neonates

N. Duman, U. Yiş, A. Polat, 2020, Journal of pediatric neurosciences.

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA

E. Özer, S. Çırak, U. Yiş, 2017, Brain and Development.