Asude Durmaz

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

Ramesh Reddy, Ngoc Minh Nguyen, Guillaume Sarrabay et al. · European Journal of Human Genetics · 2016 · 34 citations · Full text

Disease-associated Large Deletions, Next-generation Sequencing, Genetics +7

Genetic factors associated with the predisposition to late onset Alzheimer's disease

Asude Durmaz, Emre Kumral, Burak Durmaz et al. · Gene · 2019 · 34 citations

Complex Trait Genetics, Alzheimer's Disease, Genetics +13

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Asude Durmaz, Ayça Aykut, Samim Özen et al. · Journal of Clinical Research in Pediatric Endocrinology · 2020 · 33 citations · Full text

Interview with Parents of Children with Down Syndrome: Their Perceptions and Feelings

Asude Durmaz, Tufan Çankaya, Burak Durmaz et al. · The Indian Journal of Pediatrics · 2010 · 26 citations

Down Syndrome, Child Psychology, Developmental Disability +10

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages

Necil Kütükçüler, Ayça Aykut, Neslihan Edeer Karaca et al. · Scandinavian Journal of Immunology · 2018 · 24 citations · Full text

Family Medicine, Immunodeficiencies, Genetics +21