Orhan Görükmez (Orhan Gorukmez)

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 10

Top Topics

Genome Wide Analysis

Ankylosing Spondylitis

Dna Methylation

Top Venues

Fetal and pediatric pathology

Metabolic brain disease

American journal of medical genetics. Part A

Scandinavian journal of immunology

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

Publications

Ozlem Gorukmez, Orhan Görükmez, Ali Topak
Clinical exome sequencing findings in 1589 patients. American journal of medical genetics. Part A (2023)
Orhan Görükmez, Taner Ozgur, Ozlem Gorukmez, Ali Topak
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease. Fetal and pediatric pathology (2023)
Pelin Teke Kisa, Gonca Kilic Yildirim, Burcu Ozturk Hismi, Sevil Dorum, Özge Yılmaz Küsbeci, Ali Topak, Figen Baydan, Fatma Nazlı Durmaz Celik, Orhan Görükmez, Zumrut Arslan Gulten, Arzu Ekici, Serhat Ozkan, Aylin Yaman, Nur Arslan
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement. Metabolic brain disease 36 (6) (2021)
Özlem Görükmez, Cengiz Havali, Orhan Görükmez, Sevil Dorum
Newly defined peroxisomal disease with novel ACBD5 mutation. Journal of pediatric endocrinology & metabolism : JPEM (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)
Özlem Kara, Orhan Görükmez, Arzu Ekici, Fatih Celik
A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient. Fetal and pediatric pathology 40 (5) (2020)
Derya Altay, Orhan Görükmez, Duran Arslan
Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3. Fetal and pediatric pathology (2020)
Şükrü Çekiç, Fatih Cicek, Yasin Karali, Orhan Görükmez, Erdal Eren, Sara Sebnem Kilic
Three different faces of TACI mutations. Scandinavian journal of immunology 91 (6) (2020)
Orhan Görükmez, Ozlem Gorukmez, Cengiz Havali
Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities. Neuropediatrics 50 (5) (2019)
Meliha Kasapoğlu Aksoy, Lale Altan, Orhan Görükmez, Altuğ Güner, Koray Ayar
The relationship between CRP gene polymorphism (rs2794521, rs3091244), ASDAS-CRP and ASDAS-ESR in ankylosing spondylitis. Modern rheumatology 30 (4) (2019)