Ozlem Gorukmez

6PUBLICATIONS
8CO-AUTHORS
Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesInfant and child healthForensic epidemiologyGene and molecular therapy
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Publications (6)

|Jan 06, 2023
Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability.

Elif Söbü, Gül Demet Kaya Özçora, Özlem Görükmez

|Oct 20, 2021
Newly defined peroxisomal disease with novel ACBD5 mutation.

Ozlem Gorukmez, Cengiz Havalı, Orhan Gorukmez

|Sep 22, 2021
Approaches for diagnosis and treatment in neurotransmitter disorders of childhood.

Cengiz Havalı, Sevil Dorum, Arzu Ekici

|May 26, 2021
Expanding the clinical spectrum in trichohepatoenteric syndrome.

Sevil Dorum, Ozlem Gorukmez

|May 26, 2021
Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.

Cengiz Havali, Arzu Ekici, Sevil Dorum

|Mar 13, 2020
A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome.

Orhan Gorukmez, Ozlem Gorukmez, Arzu Ekici

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Frequent Collaborators

4 joint publications

Sevil Dorum

3 joint publications

Arzu Ekici

3 joint publications

Cengiz Havalı

2 joint publications

Orhan Gorukmez