Gokhan Uyanik

Vienna, 1020, Austria

Last Updated: 09/26/2026

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Found 24 publications

Prevalence of enthesopathies in X-linked hypophosphatemia: an explorative ultrasound study.

Prevalence of enthesopathies in X-linked hypophosphatemia: an explorative ultrasound study.

Journal: JBMR plus
Published: April 15, 2025

Identifying adult hypophosphatasia in the rheumatology unit.

Identifying adult hypophosphatasia in the rheumatology unit.

Journal: Orphanet journal of rare diseases
Published: March 16, 2022

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Journal: European journal of ophthalmology
Published: June 02, 2021

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology
Published: May 13, 2021

Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond.

Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond.

Journal: International journal of molecular sciences
Published: January 20, 2021

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.

Journal: American journal of medical genetics. Part A
Published: July 28, 2020

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology
Published: July 24, 2020

Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.

Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.

Journal: Cancers
Published: June 19, 2020

Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.

Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.

Journal: Blood
Published: April 02, 2020

Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH).

Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH).

Journal: Journal of structural biology
Published: March 01, 2020

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: March 07, 2019

HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study.

HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study.

Journal: PloS one
Published: September 08, 2018
Showing 1-12 of 24

Last Updated: 09/26/2026