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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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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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Pregnancy onset congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) mimicking HELLP syndrome: a case report

Perinatal journal, 2021-12, Vol.29 (3), p.270-273

2021

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The Musculoskeletal System Manifestations in Children with Familial Mediterranean Fever

Northern Clinics of Istanbul, 2020-01, Vol.7 (5), p.438-442

Demir, Ferhat

2020

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Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor

Journal of neurosciences in rural practice, 2024-07, p.1-6, Article 1

2024

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Epidemiological Evaluation of Next-Generation Sequencing and MLPA Results in Patients with a Presumptive Cystic Fibrosis Diagnosis

OSMANGAZİ JOURNAL OF MEDICINE, 2024-08, Vol.46 (5)

2024

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Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls

International journal of cancer, 2021-01, Vol.148 (2), p.285-295

2021

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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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Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

Indian journal of hematology & blood transfusion, 2016-12, Vol.32 (4), p.454-459

2016

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Mide kanserli hastalarda Ku70 gen polimorfizmi araştırılması

Canbek, Sezin

2013

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Computer based extraction of phenoptypic features of human congenital anomalies from the digital literature with natural language processing techniques

Studies in health technology and informatics, 2014, Vol.205, p.570

2014

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Detection of [alpha]-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

Indian journal of hematology & blood transfusion, 2016-12, Vol.32 (4), p.454

2016

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A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10

Erciyes medical journal (Online), 2016-03, Vol.38 (1), p.46-47

2016

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Glutathione S-Transferase Gene Polymorphisms in Children with Down Syndrome and Their Mothers

International journal of human genetics, 2015-03, Vol.15 (1), p.33-39

2015

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A rare disorder of sex development; de la chapelle syndrome

DAHUDER Medical Journal, 2023-04, Vol.3 (2), p.72-75

2023

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Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

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

Pregnancy onset congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) mimicking HELLP syndrome: a case report

The Musculoskeletal System Manifestations in Children with Familial Mediterranean Fever

Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor

Epidemiological Evaluation of Next-Generation Sequencing and MLPA Results in Patients with a Presumptive Cystic Fibrosis Diagnosis

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls

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

Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

Mide kanserli hastalarda Ku70 gen polimorfizmi araştırılması

Computer based extraction of phenoptypic features of human congenital anomalies from the digital literature with natural language processing techniques

Detection of [alpha]-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10

Glutathione S-Transferase Gene Polymorphisms in Children with Down Syndrome and Their Mothers

A rare disorder of sex development; de la chapelle syndrome

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