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A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay
Kart, Pınar Özkan; Çitli, Şenol; Yıldız, Nihal; Cansu, Ali (Elsevier, 2023)Background: The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant pons and ...