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120 积分 2026-01-08 加入
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
3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
4个月前
已完结
Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing
4个月前
已完结
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
4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
5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
5个月前
已完结
Kinase Mutations and Imatinib Response in Patients With Metastatic Gastrointestinal Stromal Tumor
5个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
5个月前
已完结
Real-time incoherent subtraction of irradiance
5个月前
已完结
Genotype-phenotype correlations of COL2A1 and COL11A1 patients
5个月前
已完结
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