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DNAJC21‐related thrombocytopenia in a young adult female

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-06, Vol.193 (2), p.193-197

2023

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Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1

Journal of cardiovascular electrophysiology, 2022-02, Vol.33 (2), p.262-273

2022

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Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient

Molecular syndromology, 2021-10, Vol.12 (6), p.379-385

2021

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The same mutation in a family with adenosine deaminase 2 deficiency

Rheumatology international, 2021-01, Vol.41 (1), p.227-233

2021

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ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2474-2480

2019

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Clinical findings and molecular diagnosis in children with Bardet-Biedl Syndrome in Turkey: Identification of novel variants

Gülhane tıp dergisi, 2022-06, Vol.64 (2), p.144-151

2022

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Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Frontiers in public health, 2023-01, Vol.10, p.1049349-1049349

2023

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Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.2009-2016

2018

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The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation

Electronic journal of general medicine, 2018-01, Vol.15 (4), p.em57

2018

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Evaluation and Long-term Monitoring of Patients with MODY, and Description of Novel Mutations

Journal of academic research in medicine, 2022-08, Vol.12 (2), p.99-107

2022

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Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

American journal of perinatology, 2018-04, Vol.35 (5), p.427-433

2018

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COVID-19 PCR test performance on samples stored at ambient temperature

Journal of virological methods, 2022-03, Vol.301, p.114404-114404, Article 114404

2022

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Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey

The journal of pediatric research, 2018-03, Vol.5 (1), p.11-16

2018

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Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

Diabetes, obesity & metabolism, 2023-07, Vol.25 (7), p.1950-1963

2023

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Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer

Expert review of molecular diagnostics, 2022-02, Vol.22 (2), p.239-246

2022

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A rare disease: ZAP70 deficiency

Northern Clinics of Istanbul, 2024-01, Vol.11 (2), p.167-170

2024

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Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63533-n/a

2024

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Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene

Journal of Pediatric Endocrinology and Metabolism, 2022-05, Vol.35 (5), p.657-662

2022

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Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Frontiers in genetics, 2024, Vol.15, p.1347474-1347474

2024

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Peters Plus syndrome: a recognizable clinical entity

Turkish journal of pediatrics, 2020-01, Vol.62 (1), p.136-140

2020

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Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

Frontiers in pediatrics, 2024-02, Vol.12, p.1357365-1357365

2024

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Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

Frontiers in pediatrics, 2024-07, Vol.12, p.1412880

2024

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Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum

European journal of medical genetics, 2019-06, Vol.62 (6), p.103535-103535, Article 103535

2019

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Responding to Covid-19 in Istanbul: Perspective from Genomic Laboratory

Northern Clinics of Istanbul, 2020-01, Vol.7 (3), p.311-312

Doganay, Levent

2020

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DNAJC21‐related thrombocytopenia in a young adult female

Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1

Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient

The same mutation in a family with adenosine deaminase 2 deficiency

ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes

Clinical findings and molecular diagnosis in children with Bardet-Biedl Syndrome in Turkey: Identification of novel variants

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis

The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation

Evaluation and Long-term Monitoring of Patients with MODY, and Description of Novel Mutations

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

COVID-19 PCR test performance on samples stored at ambient temperature

Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer

A rare disease: ZAP70 deficiency

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Peters Plus syndrome: a recognizable clinical entity

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum

Responding to Covid-19 in Istanbul: Perspective from Genomic Laboratory

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