Lv4
600 积分 2024-01-08 加入
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
17小时前
已完结
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
17小时前
已完结
Congenital myopathy with focal loss of cross-striations revisited
13天前
已完结
Neurodevelopmental disorders
15天前
已完结
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures
1个月前
已完结
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
1个月前
已完结
Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B
1个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
4个月前
已完结
Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie–Tooth Disease
4个月前
已完结
Trip12 is an E3 ubiquitin ligase for USP7/HAUSP involved in the DNA damage response
6个月前
已完结
皖公网安备34019202002308
