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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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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

International journal of human genetics, 2015-01, Vol.60 (1), p.1-9

2015

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Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome

World journal of pediatrics : WJP, 2016-11, Vol.12 (4), p.463-469

2016

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Corneal biomechanical properties and intraocular pressure measurement in Marfan patients

Journal of cataract and refractive surgery, 2012-02, Vol.38 (2), p.309-314

2012

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Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms

Human molecular genetics, 2022-08, Vol.31 (16), p.2751-2765

2022

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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Neuron (Cambridge, Mass.), 2015-11, Vol.88 (3), p.499-513

2015

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PEDIATRIC CARDIOMYOPATHY MUTATIONS IN A HIGHLY CONSANGUINEOUS POPULATION

Journal of the American College of Cardiology, 2016-04, Vol.67 (13), p.1399-1399

2016

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Ocular anomalies in Rubinstein-Taybi syndrome: a further case report and review of the literature

Clinical dysmorphology, 2014-10, Vol.23 (4), p.138

2014

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ALX4 dysfunction disrupts craniofacial and epidermal development

Human molecular genetics, 2009-11, Vol.18 (22), p.4357-4366

2009

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Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

International journal of cardiology, 2015-05, Vol.186, p.13-15

2015

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Case Report: Y Chromosome Microdeletion in an Infertile Patient with Mosaic Klinefelter Syndrome

International journal of human genetics, 2015-09, Vol.15 (3), p.145-148

Cetinkaya, Mehmet

2015

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Case Report: Y Chromosome Microdeletion in an Infertile Patient with Mosaic Klinefelter Synd

International journal of human genetics, 2015-09, Vol.15 (3), p.145-148

2015

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Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Progress in pediatric cardiology, 2016-03, Vol.40, p.41-45

2016

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Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years

Acta Cardiologica, 2008-10, Vol.63 (5), p.585-589

2008

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Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome

European journal of medical genetics, 2009-09, Vol.52 (5), p.315-320

2009

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Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Journal of genetics and genomics, 2009-04, Vol.36 (4), p.251-256

2009

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Mutational screening of BASP1 and transcribed processed pseudogene TP[Psi]g-BASP1 in patients with Moebius syndrome

Journal of genetics and genomics, 2009-04, Vol.36 (4), p.251-256

2009

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Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome

Journal of genetics and genomics, 2009-04, Vol.36 (4), p.251-256

2009

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Mutational screening of BASP1 and transcribed processed pseudogene TPψg-BASP1 in patients with Moebius syndrome

Journal of genetics and genomics, 2009 (4), p.251-256

Abdullah Uzumcu Sukru Candan Guven Toksoy Z. Oya Uyguner Birsen Karaman Hacer Eris Burak Tatli Hulya Kayserili Adnan Yuksel Bilge Geckinli Memnune Yuksel-Apak Seher Basaran

2009

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Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

International journal of cardiology, 2015, Vol.186, p.13-15

2015

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Punicalagin ameliorates spermatological parameters in bisphenol A treated New Zealand White Rabbits

Medycyna weterynaryjna, 2020-11, Vol.76 (10), p.6452-2020

2020

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Polimeraz Zincir Reaksiyonu ile Kanitlanmis Viral Solunum Yolu Enfeksiyonlarinda Tromboembolik Olaylarin ve Koagulasyon Belirteclerinin Retrospektif Olarak Degerlendirilmesi

Mediterranean journal of infection, microbes & antimicrobials, 2024-01, Vol.13, p.58

2024

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Polimeraz Zincir Reaksiyonu ile Kanitlanmis Viral Solunum Yolu Enfeksiyonlarinda Tromboembolik Olaylarin ve Koagulasyon Belirteclerinin Retrospektif Olarak Degerlendirilmesi

Mediterranean journal of infection, microbes & antimicrobials, 2024-01, Vol.13, p.58

2024

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Cancer Tendency in a Patient with ZNF341 Deficiency

Journal of clinical immunology, 2020-04, Vol.40 (3), p.534-538

2020

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

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome

Corneal biomechanical properties and intraocular pressure measurement in Marfan patients

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

PEDIATRIC CARDIOMYOPATHY MUTATIONS IN A HIGHLY CONSANGUINEOUS POPULATION

Ocular anomalies in Rubinstein-Taybi syndrome: a further case report and review of the literature

ALX4 dysfunction disrupts craniofacial and epidermal development

Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

Case Report: Y Chromosome Microdeletion in an Infertile Patient with Mosaic Klinefelter Syndrome

Case Report: Y Chromosome Microdeletion in an Infertile Patient with Mosaic Klinefelter Synd

Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome

Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Mutational screening of BASP1 and transcribed processed pseudogene TP[Psi]g-BASP1 in patients with Moebius syndrome

Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome

Mutational screening of BASP1 and transcribed processed pseudogene TPψg-BASP1 in patients with Moebius syndrome

Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

Punicalagin ameliorates spermatological parameters in bisphenol A treated New Zealand White Rabbits

Polimeraz Zincir Reaksiyonu ile Kanitlanmis Viral Solunum Yolu Enfeksiyonlarinda Tromboembolik Olaylarin ve Koagulasyon Belirteclerinin Retrospektif Olarak Degerlendirilmesi

Polimeraz Zincir Reaksiyonu ile Kanitlanmis Viral Solunum Yolu Enfeksiyonlarinda Tromboembolik Olaylarin ve Koagulasyon Belirteclerinin Retrospektif Olarak Degerlendirilmesi

Cancer Tendency in a Patient with ZNF341 Deficiency

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