Özgül M. Alper

Mutational spectrum of<i>MYO15A</i>: the large N-terminal extension of myosin XVA is required for hearing

N. Nal, Zubair M. Ahmed, Engin Erkal et al. · Human Mutation · 2007 · 91 citations · Full text

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families

Lacey Williams, Durkadın Demir Ekşi, Yiping Shen et al. · Fertility and Sterility · 2017 · 68 citations · Full text

Down Syndrome, Genetic Analysis, Mayer-rokitansky-kuster-hauser Syndrome +10

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

Chien-Chih Wu, Özgül M. Alper, Jyh‐Feng Lu et al. · Human Reproduction · 2005 · 47 citations · Full text

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Güney Bademci, Clemer Abad, Armağan İncesulu et al. · Human Genetics · 2018 · 41 citations

Developmental Biology, Novel Gene, Genetic Disorder +10

A cystic fibrosis patient with two novel mutations in mitochondrial DNA: Mild disease led to delayed diagnosis of both disorders

Lee‐Jun C. Wong, Min‐Hui Liang, Haeyoung Kwon et al. · American Journal of Medical Genetics · 2002 · 34 citations

Genetics, Genetic Epidemiology, Molecular Biology +17