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Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings

Journal of clinical research in pediatric endocrinology, 2017-09, Vol.9 (3), p.278-282

2017

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Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH

Molecular syndromology, 2023-06, Vol.14 (3), p.246-253

2023

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A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type

Clinical dysmorphology, 2020-01, Vol.29 (1), p.61-64

2020

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HLA DQ2 and HLA DQ8 genetic evaluation in children with Type 1 Diabetes Mellitus and Celiac Disease

Medical Science and Discovery, 2023-03, Vol.10 (3), p.178-181

2023

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Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

Molecular syndromology, 2024-03, Vol.15 (2), p.89-95

2024

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GBAMutation Analysis in Turkish Parkinson’s Disease Patients: Comparison of Clinical and Cognitive Performance

Archives in Neurology & Neuroscience, 2022-01, Vol.12 (2)

Anlaş, Özlem

2022

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The Genotype-phenotype Correlation of HLA-DQ2 and HLA-DQ8 Haplotypes in Pediatric Celiac Disease: A Single Center Experience

Meandros medical and dental journal, 2023-09, Vol.24 (3), p.220-225

2023

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Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience

Indian journal of hematology & blood transfusion, 2024-04, Vol.40 (2), p.268-280

2024

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A rare cause of paroxysmal movement disorder associated with TBC1D24 Gene mutation in two siblings

Annals of the Indian Academy of Neurology, 2023-05, Vol.26 (3), p.290-293

2023

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Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması

Pamukkale Medical Journal, 2020-01

2020

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Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome

Archives of rheumatology, 2023-06, Vol.38 (2), p.299-306

2023

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Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.122, Article 122

2024

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The Influence of Genetic Polymorphisms on Warfarin Dosage Requirements in Cardiac Valve Surgery Patients

Cukurova Anestezi ve Cerrahi Bilimler Dergisi, 2024-06, Vol.7 (2), p.104-107

2024

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Tek Merkez, İki Farklı Beta Talasemili Çocuk Hasta Grubunda Beta Talasemi Mutasyonlarının Çeşitliliği

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 2022-12, Vol.9 (4), p.487-491

2022

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A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation

Clinical neurology and neurosurgery, 2022-07, Vol.218, p.107283-107283, Article 107283

2022

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Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey

Molecular syndromology, 2024-10, p.1-8

2024

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Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH

Molecular syndromology, 2023, Vol.14 (3), p.246-253

2023

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The Role of miR-26a, miR-29a and miR-448-3p in the Development of Cerebral Aneurysm

Turkish neurosurgery, 2023-01, Vol.33 (3), p.423-430

2023

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Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series

European journal of medical genetics, 2022-08, Vol.65 (8), p.104555-104555, Article 104555

2022

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An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome

International journal of rheumatic diseases, 2023-10, Vol.26 (10), p.2064-2068

2023

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A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome

Pediatric allergy, immunology, and pulmonology, 2022-09, Vol.35 (3), p.129-132

2022

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An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome

International journal of rheumatic diseases, 2023, Vol.26 (10), p.2064-2068

2023

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THE EVALUATION OF MUSCULOSKELETAL SYSTEM PROBLEMS AND RELATED FACTORS IN DIYARBAKIR PHYSIOTHERAPISTS

Cumhuriyet tıp dergisi, 2020-08

2020

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Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings

Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type

HLA DQ2 and HLA DQ8 genetic evaluation in children with Type 1 Diabetes Mellitus and Celiac Disease

Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

GBAMutation Analysis in Turkish Parkinson’s Disease Patients: Comparison of Clinical and Cognitive Performance

The Genotype-phenotype Correlation of HLA-DQ2 and HLA-DQ8 Haplotypes in Pediatric Celiac Disease: A Single Center Experience

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience

A rare cause of paroxysmal movement disorder associated with TBC1D24 Gene mutation in two siblings

Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması

Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report

The Influence of Genetic Polymorphisms on Warfarin Dosage Requirements in Cardiac Valve Surgery Patients

Tek Merkez, İki Farklı Beta Talasemili Çocuk Hasta Grubunda Beta Talasemi Mutasyonlarının Çeşitliliği

A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation

Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey

Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH

The Role of miR-26a, miR-29a and miR-448-3p in the Development of Cerebral Aneurysm

Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series

An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome

An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome

THE EVALUATION OF MUSCULOSKELETAL SYSTEM PROBLEMS AND RELATED FACTORS IN DIYARBAKIR PHYSIOTHERAPISTS

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