Lv31
290 积分 2026-07-14 加入
A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta
3小时前
已完结
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome
1个月前
已完结
Classification of PTEN germline non-truncating variants: a new approach to interpretation
3个月前
已完结
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
3个月前
已关闭
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
3个月前
已完结
The phenotypic spectrum of COL2A1 mutations
3个月前
已完结
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