Lv12
90 积分 2022-01-19 加入
Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases
21小时前
已完结
Intrafamilial Variability of IMPG1-Associated Vitelliform Dystrophy
1天前
已关闭
Expanding the phenotypical spectrum of the c.1876C>T p.(Leu626Phe) variant in IMPG1‐associated disease
1天前
已关闭
Clinical experience of a monogenic diabetes unit during 2008--2012 in the Department of Endocrinology and Nutrition (Malaga, Spain)
7天前
已关闭
Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis
8天前
已完结
Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion
9天前
已关闭
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
10天前
已完结
Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype
13天前
已完结
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
13天前
已完结
Pharmacological management of prolonged seizures in Dravet syndrome including intravenous phenytoin
13天前
已完结
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