Lv3
284 积分 2021-07-23 加入
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
4天前
已完结
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
10天前
已完结
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy
10天前
已完结
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
10天前
已完结
Heterozygous variants in USP25 cause genetic generalized epilepsy
25天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
30天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
1个月前
已完结
Detecting genomic mosaicism in “de novo” genetic epilepsy by amplicon-based deep sequencing
1个月前
已完结
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability
1个月前
已完结
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability
1个月前
已完结
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