Lv33
260 积分 2025-03-10 加入
Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1
4小时前
求助中
Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis
1个月前
已完结
Spinal muscular atrophy caused by compound heterozygous SMN1 mutations: two cases and literature review
1个月前
已完结
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews
1个月前
已完结
Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels
1个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已完结
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]
2个月前
已完结
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
2个月前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
3个月前
已关闭
皖公网安备34019202002308
