ORCID "0000-0001-6930-7148" Diğer Yayınlar Koleksiyonu için listeleme
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Covid-19: Pathogenesis, genetic polymorphism, clinical features and laboratory findings
Öztürk, Recep; Taşova, Yeşim; Ayaz, Akif (TUBITAK Scientific & Technological Research Council of Turkey, 2020)COVID-19 caused by a novel agent SARS-CoV-2 progressed to a pandemic condition and resulted in a major public health concern worldwide, leading to social and economic issues at the same time. The pathogenesis of COVID-19 ... -
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
Öztürk, Gülten; Ayaz, Akif; Topçu, Yasemin; Akyüz, Gülcan; Ünver, Olcay; Akbeyaz, İsmail; Ekinci, Gazanfer; Türkdoğan, Dilşad (Wolters Kluwer Medknow Publications, 2022)Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, ...