Lv1
60 积分 2025-01-14 加入
[Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene]
21天前
已完结
Nonfamilial Hypertrophic Cardiomyopathy
1个月前
已关闭
Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease
2个月前
已完结
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
2个月前
已完结
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants
3个月前
已完结
A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications
3个月前
已完结
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings
3个月前
已完结
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
4个月前
已完结
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
4个月前
已完结
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION
4个月前
已完结
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