Lv4
620 积分 2024-01-08 加入
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
19小时前
已完结
Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B
11天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2个月前
已完结
Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot–Marie–Tooth Disease
2个月前
已完结
Trip12 is an E3 ubiquitin ligase for USP7/HAUSP involved in the DNA damage response
4个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
9个月前
已完结
Variation in GABA‐A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)
10个月前
已完结
The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits
10个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
10个月前
已关闭
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
11个月前
已完结
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