Lv1
60 积分 2026-04-22 加入
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
6小时前
待确认
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
1个月前
已完结
Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients
1个月前
已完结
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss
2个月前
已完结
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss
2个月前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
2个月前
已完结
Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia
2个月前
已完结
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
2个月前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
2个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
2个月前
已完结
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