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The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

Journal of clinical research in pediatric endocrinology, 2021-09, Vol.13 (3), p.320-331

2021

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Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

Balkan medical journal, 2023-01, Vol.40 (1), p.13-20

2023

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Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time

Balkan medical journal, 2020-09, Vol.37 (5), p.297-298

2020

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Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report

Molecular syndromology, 2021-03, Vol.12 (1), p.46-51

2021

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The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis

Medical journal of Bakirköy, 2023-06, Vol.19 (2), p.191-199

2023

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Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey

Genetic testing and molecular biomarkers, 2021-01, Vol.25 (1), p.59-67

2021

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Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation

Molecular syndromology, 2022-02, Vol.13 (2), p.88-98

2022

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Shprintzen-Goldberg Syndrome: Case Report

Meandros medical and dental journal, 2018-08, Vol.19 (2), p.175-177

2018

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

American journal of human genetics, 2021-10, Vol.108 (10), p.1981-2005

2021

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A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10

Erciyes medical journal (Online), 2016-03, Vol.38 (1), p.46-47

2016

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TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ

İstanbul Tıp Fakültesi Dergisi, 2021-01, Vol.84 (1)

2021

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Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience

The European research journal, 2023-07, Vol.9 (4), p.725-729

2023

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Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly

Journal of head & neck physicians and surgeons, 2022-01, Vol.10 (1), p.112-115

2022

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Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

Global medical genetics, 2022-09, Vol.9 (3), p.226-236

2022

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Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies

Taiwanese journal of obstetrics & gynecology, 2022-05, Vol.61 (3), p.504-509

2022

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Effects of Chromosomal Translocations on Sperm Count in Azoospermic and Oligospermic Cases

Journal of Basic and Clinical Health Sciences, 2022-09, Vol.6 (3), p.921-927

2022

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Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method

Global medical genetics, 2022-09, Vol.9 (3), p.200-207

2022

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The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease

Turkish neurosurgery, 2021, Vol.31 (6), p.888-895

2021

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Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

Global medical genetics, 2022-03, Vol.9 (1), p.029-033

2022

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The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma

Family practice and palliative care (Online), 2019-03, Vol.4 (1), p.1-6

2019

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The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

Global medical genetics, 2023-06, Vol.10 (2), p.117-122

2023

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Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders

Noro-Psikiyatri Arsivi, 2020-09, Vol.57 (3), p.177-191

2020

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Clinical Features of Aberrations Chromosome 22q: A Pilot Study

Global medical genetics, 2022-03, Vol.9 (1), p.042-050

2022

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Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Global medical genetics, 2020-08, Vol.7 (2), p.068-071

2020

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Liquid biopsy as a new era in endometrial cancer

Oncologie (Paris, France), 2024-05, Vol.26 (3), p.483-486

2024

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The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time

Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report

The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis

Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey

Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation

Shprintzen-Goldberg Syndrome: Case Report

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10

TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ

Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience

Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies

Effects of Chromosomal Translocations on Sperm Count in Azoospermic and Oligospermic Cases

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method

The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease

Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders

Clinical Features of Aberrations Chromosome 22q: A Pilot Study

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Liquid biopsy as a new era in endometrial cancer

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