Lv51
1360 积分 2024-02-29 加入
Analysis of DMD gene variants in a single center
26天前
已完结
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
1个月前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
1个月前
已完结
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
1个月前
已完结
Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang
1个月前
已完结
Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang
1个月前
已关闭
结构性拷贝数增加的解读标准：来自美国医学遗传学与基因组学学会(ACMG)和临床基因组资源中心(ClinGen)的建议
1个月前
已完结
A novel VEGFR3 mutation causes Milroy disease
1个月前
已完结
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
1个月前
已完结
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
1个月前
已关闭
皖公网安备34019202002308
