Lv2
114 积分 2021-12-02 加入
Novel insights into the genetic profile of hereditary spastic paraplegia in India
2天前
已完结
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung’s disease
7天前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
9天前
已完结
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
10天前
已完结
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing
23天前
已完结
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
24天前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
24天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
1个月前
已完结
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
1个月前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
1个月前
已完结
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