Yazar "Derin, Hatice" için listeleme
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Distinct autism spectrum disorder phenotype and hand-flapping stereotypes: Two siblings with novel homozygous mutation in TRAPPC9 gene and literature review
Bolat, Hilmi; Bolat, Gül Ünsel; Derin, Hatice; Şen, Aşkın; Ceylaner, Serdar (Karger, 2022)Objective: Pathogenic mutations of the TRAPPC9 gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic ... -
Phenotypic and brain imaging findings associated with a 10p proximal deletion including the WAC gene: Case report and literature review
Bolat, Hilmi; Derin, Hatice; Bolat, Gül Ünsel (Lippincott Williams & Wilkins, 2022)Microarray-based techniques are an important testing method in etiological studies of intellectual disability and autism spectrum disorder. Interstitial deletion in the p11–p12 region of chromosome 10 is rare, having ...
