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Blau syndrome with a rare mutation in exon 9 of NOD2 gene

Autoimmunity (Chur, Switzerland), 2019-11, Vol.52 (7-8), p.256-263

2019

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New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey

International journal of diabetes in developing countries, 2022-10, Vol.42 (4), p.703-712

2022

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Exploring genetic variants in congenital monosaccharide‐disaccharide metabolism: Carrier ratios and phenotypic insights

Journal of pediatric gastroenterology and nutrition, 2024-06, Vol.78 (6), p.1251-1260

2024

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Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases

Fetal and pediatric pathology, 2022-02, Vol.41 (1), p.68-76

2022

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Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations

Genetic testing and molecular biomarkers, 2012-04, Vol.16 (4), p.279-286

2012

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The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report

The Egyptian journal of medical human genetics, 2018-10, Vol.19 (4), p.437-441

2018

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Germ-line MTHFR C677T, FV H1299R and PAI-1 5G/4G variations in breast carcinoma

Asian Pacific journal of cancer prevention : APJCP, 2013-01, Vol.14 (5), p.2903-2908

2013

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Warfarin Resistance: A Case Report

Eurasian journal of emergency medicine, 2019-03, Vol.18 (1), p.61-63

2019

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Association of endothelial nitric oxide synthase Glu298Asp gene polymorphism in psoriasis cases with hypertension

Annals of Saudi medicine, 2014-07, Vol.34 (4), p.340-345

2014

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Is there any increased risk of hypertension, diabetes and cardiac diseases in psoriatic patients with TNF-α G238A and G308A polymorphism?

Postȩpy dermatologii i alergologii, 2016-12, Vol.6, p.440-444

2016

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Re-evaluation of Genetic Variants in Parkinson’s Disease Using Targeted Panel and Next-Generation Sequencing

Twin research and human genetics, 2023-04, Vol.26 (2), p.164-170

2023

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A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels

Hemoglobin, 2022-03, Vol.46 (2), p.87-90

2022

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A New Mutation, Hb A 2 -Canakkale [δ10(A7)Ala→Val; HBD : c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A 2 Levels

Hemoglobin, 2022-03, Vol.46 (2), p.87-90

2022

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Association Between Inherited Thrombophilia and Impaired Right Ventricular Function in Deep Vein Thrombosis Without Symptomatic Pulmonary Embolism

Clinical and applied thrombosis/hemostasis, 2014-04, Vol.20 (3), p.270-277

2014

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A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype

Journal of tropical pediatrics (1980), 2022-12, Vol.69 (1)

2022

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A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63636-n/a

2024

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Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene

Frontiers in endocrinology (Lausanne), 2023, Vol.14, p.1281112-1281112

2023

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Importance of CYP450 genes rs16947, rs2740574 and rs776746 polymorphisms in colchicine resistance or side effects in FMF patients

Journal of biotechnology, 2018-08, Vol.280, p.S65-S65

2018

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Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2209-2214

2023

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The comparison of telomeric DNA length in different biological materials in various cancers by real-time PCR amplification of circulating tumour DNA

Journal of biotechnology, 2017-08, Vol.256, p.S79-S79

2017

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The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients

Clinical neurology and neurosurgery, 2021-03, Vol.202, p.106487-106487, Article 106487

2021

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Melatonin receptor gene polymorphisms as a risk factor in patients with diabetic peripheral neuropathy

Diabetes/metabolism research and reviews, 2022-11, Vol.38 (8), p.e3573-n/a

2022

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Interleukin-23R Gene Polymophisms in Patients with Diabetic Peripheral Polyneuropathy

Konuralp Tıp Dergisi, 2022-06, Vol.14 (2), p.406-410

2022

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Clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome: Results from thirteen patients with variable phenotypes

Journal of biotechnology, 2016-08, Vol.231, p.S82-S82

2016

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Copy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach

Turkish journal of medical sciences, 2022-01, Vol.52 (5), p.1689-1696

2022

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Blau syndrome with a rare mutation in exon 9 of NOD2 gene

New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey

Exploring genetic variants in congenital monosaccharide‐disaccharide metabolism: Carrier ratios and phenotypic insights

Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases

Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations

The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report

Germ-line MTHFR C677T, FV H1299R and PAI-1 5G/4G variations in breast carcinoma

Warfarin Resistance: A Case Report

Association of endothelial nitric oxide synthase Glu298Asp gene polymorphism in psoriasis cases with hypertension

Is there any increased risk of hypertension, diabetes and cardiac diseases in psoriatic patients with TNF-α G238A and G308A polymorphism?

Re-evaluation of Genetic Variants in Parkinson’s Disease Using Targeted Panel and Next-Generation Sequencing

A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels

A New Mutation, Hb A 2 -Canakkale [δ10(A7)Ala→Val; HBD : c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A 2 Levels

Association Between Inherited Thrombophilia and Impaired Right Ventricular Function in Deep Vein Thrombosis Without Symptomatic Pulmonary Embolism

A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype

A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene

Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene

Importance of CYP450 genes rs16947, rs2740574 and rs776746 polymorphisms in colchicine resistance or side effects in FMF patients

Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature

The comparison of telomeric DNA length in different biological materials in various cancers by real-time PCR amplification of circulating tumour DNA

The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients

Melatonin receptor gene polymorphisms as a risk factor in patients with diabetic peripheral neuropathy

Interleukin-23R Gene Polymophisms in Patients with Diabetic Peripheral Polyneuropathy

Clinical characteristics and cytogenetic abnormalities of chromosome 22q11.2 syndrome: Results from thirteen patients with variable phenotypes

Copy number variations in patients with idiopathic recurrent pregnancy loss: an array-CGH approach

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