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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
Mercan, Sevcan; Akcakaya, Nihan Hande; Salman, Baris; Yapici, Zuhal; Ozbek, Ugur; Ugur Iseri, Sibel Aylin (Springer, 2023)Background Syndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting extreme genetic and clinical heterogeneity. This layered heterogeneity can ... -
DBS in pediatric patients: institutional experience
Canaz, Huseyin; Karalok, Isik; Topcular, Baris; Agaoglu, Mert; Yapici, Zuhal; Aydin, Sabri (SPRINGER, 2018)DBS is initially used for treatment of essential tremor and Parkinson's disease in adults. In 1996, a child with severe life-threatening dystonia was offered DBS to the internal globus pallidus (GPi) with lasting efficacy ... -
Pallidal Stimulation in an 11-Year-Old Boy with Treatment-Resistant Tourette Syndrome
Kilincaslan, Ayse; Aydin, Sabri; Kok, Burcu Ece; Akcakaya, Hande; Yapici, Zuhal (MARY ANN LIEBERT, INC, 2017)… -
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up
Mercan, Sevcan; Iseri, Sibel Aylin Ugur; Yigiter, Remzi; Akcakaya, Nihan Hande; Saka, Esen; Yapici, Zuhal (Routledge Journals, Taylor & Francis Ltd, 2022)Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological disease with childhood or adult onset. It is a subtype of clinically and genetically heterogeneous group of disorders, collectively ...