Bölüm "İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı" Diğer Yayınlar Koleksiyonu için listeleme
Toplam kayıt 4, listelenen: 1-4
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Covid-19: Pathogenesis, genetic polymorphism, clinical features and laboratory findings
(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 ... -
Determination of a new mutation in MT-ND1 gene of a patient with dextrocardia, ventriculoarterial discordance, and tricuspid atresia
(Blackwell Publishing, 2015)Tricuspid atresia, a congenital heart defect (CHD) with unknown etiology, occurs 0.056 per 100 live births and is invariably associated with right ventricular hypoplasia, and atrial/ventricular septal defects (1). Recently, ... -
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
(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, ... -
The understanding of Parkinson's disease through genetics and new therapies
(Wiley, 2022)Introduction: Parkinson's disease is one of the progressive neurodegenerative diseases from which people suffer for years. The mechanism of this disease is associated with a decrease in the number of dopaminergic neurons ...