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A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)

Clinical genetics, 2023-12, Vol.104 (6), p.679-685

2023

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Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases

Clinical rheumatology, 2021-06, Vol.40 (6), p.2327-2337

2021

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Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

Clinical rheumatology, 2020-12, Vol.39 (12), p.3733-3745

2020

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Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

Molecular syndromology, 2021-04, Vol.12 (2), p.106-111

2021

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Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Molecular syndromology, 2020-02, Vol.11 (1), p.38-42

2020

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Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

Journal of child neurology, 2021-09, Vol.36 (10), p.816-822

2021

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A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Korean Journal of Family Medicine, 2017, 38(2), , pp.102-105

2017

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HERC1 mutations in idiopathic intellectual disability

European journal of medical genetics, 2017-05, Vol.60 (5), p.279-283

2017

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Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

European journal of obstetrics & gynecology and reproductive biology, 2018-02, Vol.221, p.76-80

2018

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Ophthalmo-acromelic syndrome in an infant

European journal of medical genetics, 2019-07, Vol.62 (7), p.103664-103664, Article 103664

2019

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Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

Journal of human genetics, 2018-09, Vol.63 (9), p.1003-1007

2018

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Anauxetic dysplasia: A rare clinical entity

Turkish journal of pediatrics, 2018-01, Vol.60 (1), p.89-93

2018

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A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility

Skin appendage disorders, 2022-11, Vol.8 (6), p.511-514

2022

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Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

Journal of clinical research in pediatric endocrinology, 2024-01

2024

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Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus

Journal of clinical research in pediatric endocrinology, 2023-02

2023

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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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Immunocompetent and ımmunocompromised 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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Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

Fetal and pediatric pathology, 2017-11, Vol.36 (6), p.445-451

2017

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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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Investigation of association between ABO blood groups and COVID-19 clinical severity

Medical Science and Discovery, 2021-12, Vol.8 (12), p.673-676

2021

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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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Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.378-383

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

2018

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A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)

Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases

Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum

Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

HERC1 mutations in idiopathic intellectual disability

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

Ophthalmo-acromelic syndrome in an infant

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

Anauxetic dysplasia: A rare clinical entity

A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility

Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus

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

Immunocompetent and ımmunocompromised children in pre-vaccine era: A tertiary care center experience in Turkey

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

DNAJC21‐related thrombocytopenia in a young adult female

Investigation of association between ABO blood groups and COVID-19 clinical severity

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

Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels

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

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