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

Journal of human genetics, 2015-01, Vol.60 (1), p.51-51

2015

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Effect of different storage conditions on COVID‐19 RT‐PCR results

Journal of medical virology, 2021-12, Vol.93 (12), p.6575-6581

2021

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Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

Clinical genetics, 2022-09, Vol.102 (3), p.201-217

2022

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An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants

Journal of human genetics, 2021-07, Vol.66 (7), p.647-657

2021

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A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey

Journal of clinical research in pediatric endocrinology, 2022-11

2022

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ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

Experimental dermatology, 2019-10, Vol.28 (10), p.1142-1145

2019

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The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome

Medeniyet medical journal, 2022-09, Vol.37 (3), p.226-233

2022

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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

The journal of clinical endocrinology and metabolism, 2019-08, Vol.104 (8), p.3049-3067

2019

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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.524-527

2021

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The evaluation of potential global impact of the N501Y mutation in SARS‐COV‐2 positive patients

Journal of medical virology, 2022-03, Vol.94 (3), p.1009-1019

2022

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Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features

Molecular syndromology, 2022-02, Vol.13 (1), p.23-37

2022

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Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

Case reports in pediatrics, 2014-01, Vol.2014, p.614238-4

2014

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Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2241-2249

2021

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Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Frontiers in genetics, 2022-04, Vol.13, p.861236-861236

2022

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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

Medeniyet medical journal, 2022-06, Vol.37 (2), p.180-193

2022

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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Genes, 2021-03, Vol.12 (4), p.510

2021

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How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?

The journal of maternal-fetal & neonatal medicine, 2017-04, Vol.30 (8), p.938-941

2017

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A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family

Biochemia medica, 2016-01, Vol.26 (2), p.264-271

2016

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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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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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A Case of Primary Ciliary Dyskinesia Syndrome with Situs Ambiguous

Respiratory case reports, 2024, Vol.13 (1), p.62-66

2024

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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

American journal of human genetics, 2019-07, Vol.105 (1), p.132-150

2019

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

Effect of different storage conditions on COVID‐19 RT‐PCR results

Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants

A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey

ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

The evaluation of potential global impact of the N501Y mutation in SARS‐COV‐2 positive patients

Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features

Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

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

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

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?

A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

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

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

A Case of Primary Ciliary Dyskinesia Syndrome with Situs Ambiguous

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

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