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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia

Journal of medical virology, 2023-02, Vol.95 (2), p.e28457-n/a

2023

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Assessment of whole-exome sequencing results in neurogenetic diseases

Journal of human genetics, 2023-12, Vol.68 (12), p.797-804

2023

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A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y

Andrologia, 2021-12, Vol.53 (11), p.n/a

2021

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Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report

Transfusion and apheresis science, 2023-08, Vol.62 (4), p.103710-103710, Article 103710

2023

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Case of twin achondroplasia and autism coexistence and literature review

Psychiatric genetics, 2023-12, Vol.33 (6), p.243-250

2023

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Investigation of the interchromosomal effects in male carriers with structural chromosomal abnormalities using FISH

Turkish journal of urology, 2020-05, Vol.46 (3), p.178-185

2020

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Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?

Psychiatric genetics, 2024-06, Vol.34 (3), p.71-73

2024

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Status dystonicus associated with CLN8 disease

Brain & development (Tokyo. 1979), 2021-04, Vol.43 (4), p.571-575

2021

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Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey

Biochemical genetics, 2024-07

2024

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Mild congenital myopathy due to a novel variation in SPEG gene

Intractable & Rare Diseases Research, 2021/08/31, Vol.10(3), pp.220-222

2021

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The effect of rs9939609 FTO gene polymorphism on weight loss after laparoscopic sleeve gastrectomy

Surgical endoscopy, 2016-01, Vol.30 (1), p.121-125

2016

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Male infertility associated with de novo pericentric inversion of chromosome 1

Turkish journal of urology, 2017-12, Vol.43 (4), p.560-562

2017

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

Breast (Edinburgh), 2022-10, Vol.65, p.15-22

2022

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Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome

Clinical dysmorphology, 2015-01, Vol.24 (1), p.24-25

2015

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A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia

Cancer genetics, 2023-06, Vol.274-275, p.51-53

2023

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Tüm Ekzom Dizileme Verilerinde İkincil Bulguların Retrospektif Olarak Değerlendirilmesi

Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi, 2024-03, Vol.44 (2), p.91-96

2024

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Herediter Meme Kanseri Tanılı ve Riskli Bireylerde BRCA1/BRCA2 Sonuçlarının Değerlendirilmesi: Varyant Frekansı, Dağılımı ve Dört Yeni Varyant (Retrospektif Kohort Çalışması)

Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi, 2024-01, Vol.44 (1), p.35-42

2024

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Evaluation of BRCA1/BRCA2 Results in Individuals Diagnosed with and at Risk for Hereditary Breast Cancer: Variant Frequency, Distribution and Four Novel Variants (Retrospective Cohort Study)

Turkiye Klinikleri Journal of Medical Sciences, 2024, Vol.44 (1), p.35-42

2024

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Retrospective Evaluation of Secondary Findings in Whole Exome Sequencing Data

Turkiye Klinikleri Journal of Medical Sciences, 2024, Vol.44 (2), p.91-96

2024

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Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey

Molecular syndromology, 2024-10, Vol.15 (5), p.362-370

2024

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HLA-B51 in Patients with Recurrent Aphthous Stomatitis

Acta dermato-venereologica, 2009-01, Vol.89 (2), p.202-203

2009

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Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

European journal of medical genetics, 2024-04, Vol.68, p.104910-104910, Article 104910

2024

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Batı Ege Bölgesinde α-Talasemi Genotipleri ve α-Talasemi Genotip Frekansı

Sağlık Bilimlerinde Değer, 2023-05, Vol.13 (2), p.257-262

2023

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A Case of Mosaic 45,X/46,XY Infertile Man with an AZF Deletion

Journal of clinical research in pediatric endocrinology, 2015-09, Vol.7 (2)

2015

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Primer infertil erkeklerdeki Y-kromozom mikrodelesyon sıklığı

Androloji Bülteni, 2023

2023

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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia

Assessment of whole-exome sequencing results in neurogenetic diseases

A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y

Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report

Case of twin achondroplasia and autism coexistence and literature review

Investigation of the interchromosomal effects in male carriers with structural chromosomal abnormalities using FISH

Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?

Status dystonicus associated with CLN8 disease

Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Turkey

Mild congenital myopathy due to a novel variation in SPEG gene

The effect of rs9939609 FTO gene polymorphism on weight loss after laparoscopic sleeve gastrectomy

Male infertility associated with de novo pericentric inversion of chromosome 1

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome

A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia

Tüm Ekzom Dizileme Verilerinde İkincil Bulguların Retrospektif Olarak Değerlendirilmesi

Herediter Meme Kanseri Tanılı ve Riskli Bireylerde BRCA1/BRCA2 Sonuçlarının Değerlendirilmesi: Varyant Frekansı, Dağılımı ve Dört Yeni Varyant (Retrospektif Kohort Çalışması)

Evaluation of BRCA1/BRCA2 Results in Individuals Diagnosed with and at Risk for Hereditary Breast Cancer: Variant Frequency, Distribution and Four Novel Variants (Retrospective Cohort Study)

Retrospective Evaluation of Secondary Findings in Whole Exome Sequencing Data

Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey

HLA-B51 in Patients with Recurrent Aphthous Stomatitis

Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?

Batı Ege Bölgesinde α-Talasemi Genotipleri ve α-Talasemi Genotip Frekansı

A Case of Mosaic 45,X/46,XY Infertile Man with an AZF Deletion

Primer infertil erkeklerdeki Y-kromozom mikrodelesyon sıklığı

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