15 Haziran 2022

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

14 Haziran 2022

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

5 Mayıs 2022

Mutation profile of the patients diagnosed with myeloid

27 Mart 2022

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

22 Mart 2022

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

7 Şubat 2022

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

7 Şubat 2022

Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings

31 Aralık 2021

Stress-induced childhood onset neurodegeneration with ataxia and seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two turkish patients

6 Eylül 2021

COVID-19: pathogenesis, genetic polymorphism, clinical features and laboratory findings

6 Eylül 2021

Evaluation of laboratory findings, clinical features and rates of diagnosis of patients admitted to outpatient clinic of pediatric neurology with neuromuscular manifestations