Lv21
146 积分 2026-01-08 加入
Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?
1个月前
已完结
HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline
1个月前
已完结
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
5个月前
已完结
中国人群非综合征型颅缝早闭的致病基因研究
6个月前
已完结
Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing
6个月前
已完结
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
7个月前
已完结
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum
7个月前
已完结
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II
7个月前
已完结
Kinase Mutations and Imatinib Response in Patients With Metastatic Gastrointestinal Stromal Tumor
7个月前
已完结
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