Lv41
754 积分 2022-01-12 加入
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance
1天前
待确认
Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy
8天前
已完结
Dravet syndrome with SCN1B gene mutation: A rare entity
8天前
已完结
From Wilson's Disease to Neurodevelopmental Disorder with Involuntary Movements, Different Genetic Interpretations in a Female Patient
11天前
已完结
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes
13天前
已完结
Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
14天前
已完结
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor
15天前
已完结
Genetic Basis of Childhood Cardiomyopathy
19天前
已完结
Genetic Basis of Childhood Cardiomyopathy
19天前
已完结
Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy
19天前
已完结
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