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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

International journal of molecular sciences, 2021-02, Vol.22 (4), p.1549

2021

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Impact of chemerin, lipid profile, and insulin resistance on disease parameters in patients with multiple sclerosis

Neurological sciences, 2021-06, Vol.42 (6), p.2471-2479

2021

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The effects of epigenetic regulation on phenotypic expressivity in Turkish patients with familial Mediterranean fever

Indian journal of rheumatology, 2019-10, Vol.14 (4), p.297-303

2019

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Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Molecular syndromology, 2022-05, Vol.13 (3), p.200-205

2022

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Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome

Neurology Asia, 2023-12, Vol.28 (4), p.1085-1094

2023

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Evaluation of Analytical Performance of Variant II Turbo HbA1c Analyzer According to Sigma Metrics

Journal of medical biochemistry, 2019-03, Vol.38 (1), p.33-37

2019

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Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation

Clinical and experimental rheumatology, 2023-10, Vol.41 (10), p.2017

2023

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Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients

Neurogenetics, 2024-07, Vol.25 (3), p.201-213

2024

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Cooperative interaction of MUC1 with the HGF/c-Met pathway during hepatocarcinogenesis

Molecular cancer, 2012-09, Vol.11 (1), p.64-64, Article 64

2012

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Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey

Acta neurologica Belgica, 2023-12, Vol.123 (6), p.2325-2335

2023

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Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?

Erciyes medical journal (Online), 2017-03, Vol.39 (1), p.12-15

2017

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Assessment of subclinical atherosclerotic cardiovascular disease in patients with ankylosing spondylitis

Anatolian journal of cardiology, 2019-09, Vol.22 (4), p.185-191

2019

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Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia

Psychiatric genetics, 2019-04, Vol.29 (2), p.57-60

2019

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Decreased Serum Fetuin-A Levels are Associated with Coronary Artery Diseases

Internal Medicine, 2010, Vol.49(13), pp.1281-1285

2010

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Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami"

Genetic counseling, 2013-01, Vol.24 (4), p.405

Bozkaya, O Giray

2013

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A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome

Journal of child neurology, 2015-03, Vol.30 (3), p.378-381

2015

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A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

Molecular syndromology, 2024-08, p.1-8

2024

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The association between estimated average glucose levels and fasting plasma glucose levels

Clinics (São Paulo, Brazil), 2010-01, Vol.65 (11), p.1077-1080

2010

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Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

TURKISH JOURNAL OF MEDICAL SCIENCES, 2020-10, Vol.50 (6), p.1573-1579

2020

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A newborn with monosomy X in association with corpus callosum agenesis

Pediatrics and neonatology, 2017-10, Vol.58 (5), p.455-457

2017

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Spinal Muscular Atrophy Results and Comparison of Commonly Used Methods

Gazi tıp dergisi, 2019-01, Vol.30 (4), p.381-383

2019

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The effect of orlistat and weight loss diet on plasma ghrelin and obestatin

Journal of research in medical sciences, 2018-01, Vol.23 (1), p.95-95

2018

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Increased circulating macrophage migration inhibitory factor levels are associated with coronary artery disease

Clinics (São Paulo, Brazil), 2015-03, Vol.70 (3), p.169-172

2015

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Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report

Skeletal radiology, 2023, Vol.52 (1), p.115-118

2023

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HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE

Genetic counseling, 2016, Vol.27 (1), p.83

2016

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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

Impact of chemerin, lipid profile, and insulin resistance on disease parameters in patients with multiple sclerosis

The effects of epigenetic regulation on phenotypic expressivity in Turkish patients with familial Mediterranean fever

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome

Evaluation of Analytical Performance of Variant II Turbo HbA1c Analyzer According to Sigma Metrics

Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients

Cooperative interaction of MUC1 with the HGF/c-Met pathway during hepatocarcinogenesis

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey

Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?

Assessment of subclinical atherosclerotic cardiovascular disease in patients with ankylosing spondylitis

Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia

Decreased Serum Fetuin-A Levels are Associated with Coronary Artery Diseases

Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami"

A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

The association between estimated average glucose levels and fasting plasma glucose levels

Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

A newborn with monosomy X in association with corpus callosum agenesis

Spinal Muscular Atrophy Results and Comparison of Commonly Used Methods

The effect of orlistat and weight loss diet on plasma ghrelin and obestatin

Increased circulating macrophage migration inhibitory factor levels are associated with coronary artery disease

Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report

HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE

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