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ArticlesPeer ReviewedFull Text
EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES
Author / Creator:Ayaz, Akif ; Yalcintepe, Sinem ; Ozalp, Ozge ; Gulec, Elif Yilmaz ; Gezdirici, Alper ; Akcay, Ebru Perim ; Koseoglu, Abdullah Huseyin ; Sahin, Yavuz
Publisher:AVES Yayincilik A.S
Journal title:Journal of Basic and Clinical Health Sciences, 2022-09, Vol.6 (3), p.921
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The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis
Author / Creator:Atlı, Emine İkbal ; Atlı, Engin ; Demir, Selma ; Yalçıntepe, Sinem ; Gürkan, Hakan
Journal title:Medical journal of Bakirköy, 2023-06, Vol.19 (2), p.191-199
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The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
Author / Creator:Yalçıntepe, Sinem ; Özgüç Çömlek, Fatma ; Gürkan, Hakan ; Demir, Selma ; Atlı, Emine İkbal ; Atlı, Engin ; Eker, Damla ; Tütüncüler Kökenli, Filiz
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Journal of clinical research in pediatric endocrinology, 2021-09, Vol.13 (3), p.320-331
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Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Author / Creator:Atlı, Engin ; Gürkan, Hakan ; Güldiken, Babürhan ; Eker, Damla ; Yalçıntepe, Sinem ; Demir, Selma ; Atlı, Emine İkbal
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Balkan medical journal, 2023-01, Vol.40 (1), p.13-20
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Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time
Author / Creator:Yalcintepe, Sinem ; Gurkan, Hakan ; Atli, Engin ; Sayin, Niyazi Cenk ; Basaran, Umit Nusret
Publisher:Galenos Yayinevi Tic. Ltd
Journal title:Balkan medical journal, 2020-09, Vol.37 (5), p.297-298
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Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss
Author / Creator:Zhuri, Drenushe ; Guler, Hazal Sezginer ; Yalcintepe, Sinem ; Demir, Selma ; Atli, Engin ; Atli, Emine Ikbal ; Gurkan, Hakan
Publisher:Ankara: AVES
Journal title:The journal of international advanced otology, 2024-07, Vol.20 (4), p.312-324
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Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
Author / Creator:Demir, Selma ; Yalçıntepe, Sinem ; Atlı, Engin ; Yalçın, Yelda ; İkbal Atlı, Emine ; Eker, Damla ; Karal, Yasemin ; Gürkan, Hakan
Publisher:Turkey: Galenos Yayinevi Tic. Ltd
Journal title:Balkan medical journal, 2021-11, Vol.38 (6), p.341-347
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Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly
Author / Creator:Yalcintepe, Sinem ; Guler, Hazal ; Zhuri, Drenushe ; Eker, Damla ; Gurkan, Hakan
Publisher:Wolters Kluwer - Medknow Publications
Journal title:Journal of head & neck physicians and surgeons, 2022-01, Vol.10 (1), p.112-115
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Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers
Author / Creator:AYAZ, Akif ; GEZDIRICI, Alper ; YILMAZ GULEC, Elif ; OZALP, Özge ; KOSEOGLU, Abdullah Huseyin ; DOGRU, Zeynep ; YALCINTEPE, Sinem
Publisher:Galenos Publishing
Journal title:Medeniyet medical journal, 2022-06, Vol.37 (2), p.180-193
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Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders
Author / Creator:Gürkan, Hakan ; Atli, Emine İkbal ; Atli, Engin ; Bozatli, Leyla ; Altay, Mengühan Araz ; Yalçintepe, Sinem ; Özen, Yasemin ; Eker, Damla ; Akurut, Çisem ; Demır, Selma ; Görker, Işık
Publisher:Turkey: AVES Yayincilik A.S
Journal title:Noro-Psikiyatri Arsivi, 2020-09, Vol.57 (3), p.177-191
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Shprintzen-Goldberg Syndrome: Case Report
Author / Creator:Yalçıntepe, Sinem ; Özalp Yüreğir, Özge ; Tuğ Bozdoğan, Sevcan ; Aslan, Hüseyin
Publisher:Aydın: Adnan Menderes Üniversitesi
Journal title:Meandros medical and dental journal, 2018-08, Vol.19 (2), p.175-177
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Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes
Author / Creator:Yalçintepe, Sinem ; Görker, Işık ; Demir, Selma ; Atli, Emine İkbal ; Atli, Engin ; Tozkir, Hilmi ; Süt, Necdet ; Özen, Yasemin ; Eker, Damla ; Mail, Çisem ; Güler, Hazal Sezginer ; Zhuri, Drenushe ; Gurkan, Hakan
Publisher:Turkey: AVES Yayincilik A.S
Journal title:Noro-Psikiyatri Arsivi, 2021-09, Vol.58 (3), p.171-175
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Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
Author / Creator:Yalcintepe, Sinem ; Gurkan, Hakan ; Korkmaz, Fatma Nur ; Demir, Selma ; Atli, Engin ; Eker, Damla ; Guler, Hazal Sezginer ; Zhuri, Drenusha ; Atli, Emine Ikbal ; Salt, Semra Ayturk ; Sahin, Mustafa ; Guldiken, Sibel
Publisher:Australia: Codon Publications
Journal title:Journal of kidney cancer and VHL, 2021-03, Vol.8 (1), p.19-24
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A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10
Author / Creator:Ayaz, Akif ; Yalçıntepe, Sinem ; Canbek, Sezin ; Sağır, Pembe ; Özge Özalp Yüreğir
Publisher:Istanbul: Kare Publishing
Journal title:Journal of Clinical Practice & Research, 2016-03, Vol.38 (1), p.46
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THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE/TRAKYA BOLGESI ERKEK INFERTILITE OLGULARINDA Y KR...
Author / Creator:Yalcintepe, Sinem ; Eker, Damla ; Gurkan, Hakan
Publisher:AVES
Journal title:İstanbul Tıp Fakültesi dergisi = Journal of the Istanbul Faculty of Medicine, 2021-03, Vol.84 (1), p.27
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Functional analysis of MMR gene VUS from potential Lynch syndrome patients
Author / Creator:Mahdouani, Marwa ; Zhuri, Drenushe ; Sezginer Guler, Hazal ; Hmida, Dorra ; Sana, Mokni ; Azaza, Mohamed ; Ben Said, Mariem ; Masmoudi, Saber ; Hmila, Fahmi ; Youssef, Sabri ; Ben Sghaier, Rihab ; Brieger, Angela ; Zeuzem, Stefan ; Saad, Ali ; Gurkan, Hakan ; Yalcintepe, Sinem ; Gribaa, Moez ; Plotz, Guido
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-06, Vol.19 (6), p.e0304141
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Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis
Author / Creator:ayaz, akif
Publisher:Istanbul: Kare Publishing
Journal title:Eurasian journal of medicine and oncology, 2022-01, Vol.6 (1), p.30
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The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis/Prenatal Tanida Kistik Fibroz Tarama Testi Sonuclarinin Ultrasonograf...
Author / Creator:Atli, Emine Ikbal ; Atli, Engin ; Demir, Selma ; Yalcintepe, Sinem ; Gurkan, Hakan
Publisher:Galenos Yayinevi Tic. Ltd
Journal title:Medical journal of Bakirköy, 2023-06, Vol.19 (2), p.191
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Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience
Author / Creator:ATLI, Emine İkbal ; MAİL, Çisem ; GURKAN, Hakan ; YALÇINTEPE, Sinem ; DEMİR, Selma ; ATLI, Engin
Publisher:Bursa: The Association of Health Research & Strategy
Journal title:The European research journal, 2023-07, Vol.9 (4), p.725-729
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RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION/TRAKYA BOLGESINDE MLPA ILE BELIRLENEN ALFA GLOBIN KOPYA SAYISI DEGISIKLIKLERININ RETROSPEKTIF ANAL...
Author / Creator:Demir, Selma ; Gurkan, Hakan ; Eker, Damla ; Yalcintepe, Sinem ; Atli, Emine Ikbal ; Atli, Engin
Publisher:AVES
Journal title:İstanbul Tıp Fakültesi dergisi = Journal of the Istanbul Faculty of Medicine, 2021-09, Vol.84 (3), p.348
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EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES

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

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

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

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

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Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss

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Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

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

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Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers

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

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Shprintzen-Goldberg Syndrome: Case Report

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Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes

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Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

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

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THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE/TRAKYA BOLGESI ERKEK INFERTILITE OLGULARINDA Y KR...

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Functional analysis of MMR gene VUS from potential Lynch syndrome patients

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Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis

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The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis/Prenatal Tanida Kistik Fibroz Tarama Testi Sonuclarinin Ultrasonograf...

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

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RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION/TRAKYA BOLGESINDE MLPA ILE BELIRLENEN ALFA GLOBIN KOPYA SAYISI DEGISIKLIKLERININ RETROSPEKTIF ANAL...

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