Lv2
160 积分 2025-04-17 加入
Mevalonate Kinase Deficiency: A Survey of 50 Patients
22小时前
待确认
Mevalonate Kinase Deficiency: A Survey of 50 Patients
22小时前
已完结
GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease
22小时前
已完结
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel
1天前
已完结
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption
7天前
已完结
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
8天前
已完结
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion
9天前
已完结
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
9天前
已完结
STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern
9天前
已完结
Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics
20天前
已完结
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