Lv31
320 积分 2021-12-01 加入
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
6天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
8天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
12天前
已完结
Subcutaneous panniculitis-like T-cell lymphoma associated with hemophagocytic lymphohistiocytosis: a systematic review of 63 patients reported in the literature
1个月前
已完结
Novel Missense Mutation in the L1 Gene in a Child With Corpus Callosum Agenesis, Retardation, Adducted Thumbs, Spastic Paraparesis, and Hydrocephalus
1个月前
已完结
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome
1个月前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
1个月前
已完结
Tyrosinase gene mutations in oculocutaneous albinism�1 (OCA1): definition of the phenotype
1个月前
已完结
ROBO4 variants linked to congenital heart defects
1个月前
已完结
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease
1个月前
已完结
皖公网安备34019202002308
