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Early diagnostic clues of mucolipidosis type II: Significance of radiological findings

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63545-n/a

2024

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A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia

Journal of pediatric hematology/oncology, 2022-01, Vol.44 (1), p.e62-e67

2022

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Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience

Italian journal of pediatrics, 2022-09, Vol.48 (1), p.1-169, Article 169

2022

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Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations

Journal of clinical research in pediatric endocrinology, 2021-09, Vol.13 (3), p.342-346

2021

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Current Approach to Genetic Causes of Female Infertility and Genetic Counseling

Duzce medical journal, 2022-10, Vol.24 (Special Issue), p.56-62

2022

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Shprintzen-Goldberg Syndrome: Case Report

Meandros medical and dental journal, 2018-08, Vol.19 (2), p.175-177

2018

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COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy

Molecular syndromology, 2024-08, Vol.15 (4), p.311-316

2024

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Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling

Molecular syndromology, 2024-08, Vol.15 (4), p.297-302

2024

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The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region

The journal of international advanced otology, 2015-08, Vol.11 (2), p.118-121

2015

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Current Approach to Genetic Causes of Male Infertility and Genetic Counseling

Duzce medical journal, 2022-10, Vol.24 (Special Issue), p.7-16

2022

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Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype

Cytology and genetics, 2023-08, Vol.57 (4), p.347-355

2023

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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis

European journal of medical genetics, 2023-06, Vol.66 (6), p.104764-104764, Article 104764

2023

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A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis

Ophthalmic genetics, 2017-05, Vol.38 (3), p.284-285

2017

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Epilepsi ve anlıksal yetiyitimi olan hastalarda moleküler karyotiplemenin klinik yararı

Cukurova Medical Journal, 2018-12, Vol.43 (Ek 1), p.44-48

2018

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Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir, 2017-07, Vol.45 (5), p.450-453

2017

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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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BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history

The breast journal, 2019-09, Vol.25 (5), p.1029-1033

2019

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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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Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

TURKISH JOURNAL OF MEDICAL SCIENCES, 2021-04, Vol.51 (2), p.657-660

2021

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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

The Journal of clinical investigation, 2016-02, Vol.126 (2), p.762-778

2016

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Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey

Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics, 2024-02, Vol.34 (1)

2024

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Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population

Journal of medical virology, 2022-11, Vol.94 (11), p.5225-5243

2022

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Hereditary spastic paraplegia type 35 with a novel mutation in fatty acid 2-hydroxylase gene and literature review of the clinical features

Annals of the Indian Academy of Neurology, 2018-10, Vol.21 (4), p.335-339

2018

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IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis

TURKISH JOURNAL OF MEDICAL SCIENCES, 2019-10, Vol.49 (5), p.1411-1417

2019

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey

Genes, 2021-01, Vol.12 (2), p.206

2021

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Early diagnostic clues of mucolipidosis type II: Significance of radiological findings

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience

Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations

Current Approach to Genetic Causes of Female Infertility and Genetic Counseling

Shprintzen-Goldberg Syndrome: Case Report

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling

The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region

Current Approach to Genetic Causes of Male Infertility and Genetic Counseling

Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype

Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis

A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis

Epilepsi ve anlıksal yetiyitimi olan hastalarda moleküler karyotiplemenin klinik yararı

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

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

BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history

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

Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population

Hereditary spastic paraplegia type 35 with a novel mutation in fatty acid 2-hydroxylase gene and literature review of the clinical features

IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey

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