Lv51
1200 积分 2023-06-06 加入
Generalized overgrowth in CDC42BPB-related Chilton-Okur-Chung neurodevelopmental syndrome: expanding the phenotypic spectrum
10天前
已完结
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
21天前
已完结
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
21天前
已完结
AAVC: An automated framework for high-accuracy ACMG-based variant classification
1个月前
已完结
Long-term reversal of Duchenne muscular dystrophy via circular arRNA-guided exon skipping in monkeys and humans
1个月前
已完结
Rewriting Duchenne muscular dystrophy therapy
1个月前
已完结
Pulmonary Immunocompromise in Stem Cell Transplantation and Cellular Therapy
1个月前
已完结
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
1个月前
已完结
Near-perfect genome sequencing in medical genetics
1个月前
已完结
Polymorphic CGG repeats in gene regulation and disease
2个月前
已完结
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