Lv4
590 积分 2024-01-08 加入
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
2个月前
已完结
The muscular dystrophies
2个月前
已完结
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
2个月前
已完结
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
2个月前
已完结
Congenital myopathy with focal loss of cross-striations revisited
2个月前
已完结
Neurodevelopmental disorders
2个月前
已完结
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures
3个月前
已完结
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
3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
4个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
6个月前
已完结
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