Lv21
180 积分 2023-11-14 加入
Genome sequencing identifies major causes of severe intellectual disability
2小时前
待确认
Genetic studies in intellectual disability and related disorders
2小时前
待确认
Genomic disorders 20 years on—mechanisms for clinical manifestations
7天前
已完结
Genomic rearrangements and sporadic disease
7天前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
13天前
已完结
Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation
2个月前
已完结
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
3个月前
已完结
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
4个月前
已关闭
Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review
6个月前
已完结
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
10个月前
已完结
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