Lv54
950 积分 2022-11-09 加入
RNA-first Approach Identifies Deep Intronic PHEX Variants in X-linked Hypophosphatemic Rickets
1天前
待确认
Y染色体微缺失遗传筛查专家建议（2025年）
2天前
已完结
Molecular genetic basis of the histo-blood group ABO system
3天前
已完结
Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic
12天前
已完结
Novel insights into the genetic profile of hereditary spastic paraplegia in India
12天前
已完结
Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China
30天前
已完结
Genetics of short stature
1个月前
已完结
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion
1个月前
已完结
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene
1个月前
已完结
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
1个月前
已完结
皖公网安备34019202002308
