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3430 积分 2024-11-14 加入
Mutation-specific Mismatch Repair–deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development
14天前
已完结
Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy
1个月前
已完结
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP: Figure 1
1个月前
已完结
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
1个月前
已完结
Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91
1个月前
已完结
De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia
1个月前
已完结
Pathogenesis of Haemophilia in 20 Women and Girls
2个月前
已完结
10个甲型血友病家系FⅧ基因突变分析
2个月前
已完结
Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
2个月前
已完结
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