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70 积分 2025-01-14 加入
Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease
28天前
已完结
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
1个月前
已完结
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants
2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
2个月前
已完结
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings
2个月前
已完结
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
2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
2个月前
已完结
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION
3个月前
已完结
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
3个月前
已完结
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations
3个月前
已完结
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