# Orhan Görükmez

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/orhan-gorukmez/

## Facts

| Field | Value |
| --- | --- |
| Citations | 402 |
| Field | Genomics and Rare Diseases |
| h-index | 13 |
| i10-index | 17 |
| Last Known Institution | Bursa Yuksek Ihtisas Egitim Ve Arastirma Hastanesi |
| OpenAlex ID | https://openalex.org/A5082999223 |
| ORCID iD | 0000-0002-9241-0896 |
| Works | 93 |

## Researcher papers

- [Lack of association of ACE gene I/D polymorphism with obstructive sleep apnea syndrome in Turkish patients](https://scholariq.org/papers/lack-of-association-of-ace-gene-i-d-polymorphism-with-obstructive-sleep-apnea/)
- [The role of genetic mutations in intrahepatic cholestasis of pregnancy](https://scholariq.org/papers/the-role-of-genetic-mutations-in-intrahepatic-cholestasis-of-pregnancy/)
- [Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera](https://scholariq.org/papers/evaluation-of-the-jak2-v617f-gene-mutation-in-turkish-patients-with-essential/)
- [Lack of association of genetic polymorphisms of angiotensin-converting enzyme gene I/D and glutathione-S-transferase enzyme T1 and M1 with retinopathy of prematures](https://scholariq.org/papers/lack-of-association-of-genetic-polymorphisms-of-angiotensin-converting-enzyme/)
- [Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement](https://scholariq.org/papers/patients-with-cerebrotendinous-xanthomatosis-diagnosed-with-diverse-multisystem/)
- [Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities](https://scholariq.org/papers/novel-mecr-mutation-in-childhood-onset-dystonia-optic-atrophy-and-basal-ganglia/)
- [A Very Rare Congenital Dyserythropoietic Anemia Variant—Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature](https://scholariq.org/papers/a-very-rare-congenital-dyserythropoietic-anemia-variant-type-iv-in-a-patient/)
- [Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation](https://scholariq.org/papers/delayed-puberty-and-gonadal-failure-in-patients-with-hax1-mutation/)
- [The Influence of Polymorphisms of Interleukin-17A and -17F Genes on Susceptibility and Activity of Rheumatoid Arthritis](https://scholariq.org/papers/the-influence-of-polymorphisms-of-interleukin-17a-and-17f-genes-on/)
- [Distribution of KRAS and BRAF Mutations in Metastatic Colorectal Cancers in Turkish Patients](https://scholariq.org/papers/distribution-of-kras-and-braf-mutations-in-metastatic-colorectal-cancers-in/)
- [Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series](https://scholariq.org/papers/rare-cause-of-bone-marrow-failure-osteopetrosis-case-series/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Blood disorders and treatments](https://scholariq.org/topics/blood-disorders-and-treatments/)
- [Immunodeficiency and Autoimmune Disorders](https://scholariq.org/topics/immunodeficiency-and-autoimmune-disorders/)
- [Glutathione Transferases and Polymorphisms](https://scholariq.org/topics/glutathione-transferases-and-polymorphisms/)

## Researcher university

- [Bursa Yuksek Ihtisas Egitim Ve Arastirma Hastanesi](https://scholariq.org/institutions/bursa-yuksek-ihtisas-egitim-ve-arastirma-hastanesi/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.