Lv3
320 积分 2021-12-01 加入
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
2个月前
已完结
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
3个月前
已完结
The natural history of hereditary multiple exostoses
4个月前
已完结
Association of brain amyloidosis with pro-inflammatory gut bacterial taxa and peripheral inflammation markers in cognitively impaired elderly
5个月前
已完结
Three novel variants (p.Glu178Lys, p.Val245Met, p.Ser250Phe) of the phenylalanine hydroxylase (PAH) gene impair protein expression and function in vitro
5个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
6个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
6个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
6个月前
已完结
Subcutaneous panniculitis-like T-cell lymphoma associated with hemophagocytic lymphohistiocytosis: a systematic review of 63 patients reported in the literature
7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
7个月前
已完结
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