Yazar "Mercan, Sevcan" için listeleme
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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 ... -
<p>Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1</p>
Takahashi, Taiko; Mercan, Sevcan; Sassa, Takayuki; Akcapinar, Gunseli Bayram; Yararbas, Kanay; Susgun, Seda; Akcakaya, Nihan Hande (Elsevier, 2022)Introduction: Next generation sequencing technologies allow detection of very rare pathogenic gene variants and uncover cerebral palsy. Herein, we describe two siblings with cerebral palsy due to ELOVL1 splice site mutation ... -
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 ...
