Lv3
380 积分 2024-02-23 加入
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
8小时前
已完结
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
8小时前
已完结
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
8小时前
已完结
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
10小时前
已完结
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13)
1天前
已关闭
Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13)
1天前
已关闭
Targeted next-generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris
21天前
已完结
[A novel GATA4 mutation leading to congenital ventricular septal defect]
23天前
已完结
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants
29天前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
1个月前
已完结
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