Mustafa Doğan (Mustafa Dogan)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 7

Top Topics

Chronic Kidney Disease

Botulinum Toxin

Gene Expression

Top Venues

Molecular biology reports

Ophthalmic genetics

Revista da Associacao Medica Brasileira (1992)

This page only lists publications with an associated author ORCID identifier.

Publications

Mustafa Doğan, Kerem Terali, Recep Eroz, Hüseyin Kılıç, Alper Gezdirici, Burçin Gönüllü
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome. Molecular biology reports 51 (1) (2024)
Mustafa Doğan, Kerem Terali, Recep Eroz, Hüseyin Kılıç, Alper Gezdirici, Burçin Gönüllü
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome. Molecular biology reports 51 (1) (2024)
Mustafa Doğan, Recep Eroz, Semih Bolu, Hüseyin Yüce, Alper Gezdirici, Ilknur Arslanoglu, Kerem Terali
Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel. Molecular biology reports 49 (8) (2022)
Cüneyd Yavaş, Cemal Un, Evrim Çelebi, Alper Gezdirici, Mustafa Doğan, Ezgi Gökpinar İli, Tunay Doğan, Nehir Özdemir Özgentürk
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome. Revista da Associacao Medica Brasileira (1992) 68 (9) (2022)
Mustafa Doğan, Recep Eröz, Kerem Terali, Alper Gezdirici, Semih Bolu
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. Molecular biology reports 48 (2) (2021)
Mustafa Doğan, Recep Eroz, Emrah Ozturk
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene. Ophthalmic genetics 42 (3) (2021)
Mustafa Doğan, Kerem Teralı, Recep Eroz, Huseyin Demirci, Kenan Kocabay
Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder. Molecular biology reports 48 (1) (2021)