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

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

7 Şubat 2022/
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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

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

31 Aralık 2021/
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COVID-19: pathogenesis, genetic polymorphism, clinical features and laboratory findings

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

6 Eylül 2021/
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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

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

6 Eylül 2021/
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