Search Results - "Ceylan, Ahmet C."
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Published in American journal of human genetics (07-10-2021)“…Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or…”
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Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Published in Human mutation (01-03-2022)“…Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate…”
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Journal Article