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The Complex Genetic Landscape of Hereditary Ataxias in Turkeyand Implications in Clinical Practice
(Wiley-Liss, 24.02.2021)
Background: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in ...
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single‑Center Experience
(Springer, 12.08.2021)
Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical fndings of ...