Özlem Görükmez (Ozlem Gorukmez)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Topics

Clostridium Difficile

Intellectual Disability

Low Density Lipoprotein

Genome Wide Analysis

Top Venues

Journal of pediatric endocrinology & metabolism : JPEM

Metabolic brain disease

American journal of medical genetics. Part A

Neurological research

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

Publications

Elif Söbü, Gül Demet Kaya Özçora, Özlem Görükmez, Bahtiyar Şahinoğlu
Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability. Journal of pediatric endocrinology & metabolism : JPEM (2023)
Cengiz Havali, Arzu Ekici, Sevil Dorum, Özlem Görükmez, Ali Topak
Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations. Neurological research 43 (9) (2021)
Sevil Dorum, Özlem Görükmez
Expanding the clinical spectrum in trichohepatoenteric syndrome. American journal of medical genetics. Part A 185 (10) (2021)
Özlem Görükmez, Cengiz Havali, Orhan Görükmez, Sevil Dorum
Newly defined peroxisomal disease with novel ACBD5 mutation. Journal of pediatric endocrinology & metabolism : JPEM (2021)
Cengiz Havali, Sevil Dorum, Arzu Ekici, Özlem Görükmez
Approaches for diagnosis and treatment in neurotransmitter disorders of childhood. Metabolic brain disease 36 (8) (2021)
Orhan Görükmez, Özlem Görükmez, Arzu Ekici
A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome. Fetal and pediatric pathology 40 (6) (2020)