Lv7
4880 积分 2022-12-28 加入
PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy
4天前
求助中
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia
1个月前
已完结
AGG Repeat Expansion and Aggregation of BIN1 in Multiple System Atrophy
1个月前
已完结
Abnormal function of astroglia lackingAbrandBcrRacGAPs
2个月前
已关闭
Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia
2个月前
已完结
Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia
2个月前
已完结
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B)
2个月前
已完结
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine
4个月前
已关闭
Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia
4个月前
已关闭
Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: a single-center cohort analysis
5个月前
已完结
皖公网安备34019202002308
