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DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients

DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients

21 Ekim 2025/

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Genetic characterization and clinicalcorrelation in a cohort of Turkish patientswith immunodeficiency: insights from wholeexome sequencing

Genetic characterization and clinicalcorrelation in a cohort of Turkish patientswith immunodeficiency: insights from wholeexome sequencing

15 Ekim 2025/

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A novel heterozygous mutation in the SYK gene and systemic inflammation with immunodeficiency – a case report

A novel heterozygous mutation in the SYK gene and systemic inflammation with immunodeficiency – a case report

15 Ekim 2025/

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Makaleler

DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients

DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients

21 Ekim 2025/

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Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia

Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia

4 Temmuz 2022/

Clinical, Genetic, and Outcome Characteristics of Pediatric Patients

Clinical, Genetic, and Outcome Characteristics of Pediatric Patients

2 Temmuz 2022/

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseases

Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseases

14 Haziran 2022/

Mutation profile of the patients diagnosed with myeloid

5 Mayıs 2022/

NTNG2 Mutasyonu: Erken nöropsikiyatrik manifestasyonlu yeni bir beyin-cilt hastalığı için aday bir gen mi? 3000 hasta üzerinden bir analiz

NTNG2 Mutasyonu: Erken nöropsikiyatrik manifestasyonlu yeni bir beyin-cilt hastalığı için aday bir gen mi? 3000 hasta üzerinden bir analiz

27 Mart 2022/

How to Manage Low Estriol Levels in Pregnancies, One Center Experience

How to Manage Low Estriol Levels in Pregnancies, One Center Experience

22 Mart 2022/

Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis

Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis

22 Mart 2022/

A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management

A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management

7 Şubat 2022/

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