ORCID "0000-0003-0464-6565" Dahili Tıp Bilimleri Bölümü Koleksiyonu için listeleme
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Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene
Doğan, Mustafa; Eröz, Recep; Öztürk, Emrah (Taylor & Francis, 2021)Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and ... -
Clinical and Molecular Findings in a Turkish Family Who Had a (c.869-1G>A) Splicing Variant in PSEN1 Gene with A Rare Condition: The Variant Alzheimer's Disease with Spastic Paraparesis
Doğan, Mustafa; Eröz, Recep; Tecellioğlu, Mehmet; Gezdirici, Alper; Çevik, Betül; Barış, İbrahim (Bentham Science, 2022)Background: Early-onset Alzheimer's disease (EOAD) is commonly diagnosed with an onset age of earlier than 65 years and accounts for 5–10% of all Alzheimer's disease (AD) cases. To date, although only 10-15% of familial ... -
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity
Doğan, Mustafa; Eröz, Recep; Terali, Kerem; Gezdirici, Alper; Bolu, Semih (Springer, 2021)Mucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the ... -
Waardenburg sendromu'nda tanımlanan çok nadir bir PAX3 geni varyantı: c.232G>A(p.Val78Met)
Kurt, Fatih; Doğan, Mustafa; Eröz, Recep (Düzce Üniversitesi, 2021)Waardenburg Sendromu(WS); İlk olarak PJ Waardenburg tarafından tanımlanmış, deri, saç, göz veya kohleadaki stria vascularis'te melanositlerin fiziksel yokluğundan kaynaklanan hastalıktır. Poliozis (saçta beyaz perçem), ...