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testler
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Anasayfa
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4 Temmuz 2022
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
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Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseases
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Mutation profile of the patients diagnosed with myeloid
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience
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Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis
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A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management
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Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings
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Stress-induced childhood onset neurodegeneration with ataxia and seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two turkish patients
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COVID-19: pathogenesis, genetic polymorphism, clinical features and laboratory findings
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Evaluation of laboratory findings, clinical features and rates of diagnosis of patients admitted to outpatient clinic of pediatric neurology with neuromuscular manifestations
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