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30 积分 2024-02-28 加入
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
13小时前
待确认
Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile
10天前
已完结
Return of genetic research results in 21,532 individuals with autism
15天前
已完结
Mutations in Sialidosis Impair Sialidase Binding to the Lysosomal Multienzyme Complex
25天前
已完结
Successful live birth in women with partial 17α hydroxylase deficiency: report of two cases
28天前
已完结
Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6
1个月前
已完结
Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
1个月前
已完结
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
1个月前
已完结
Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes
2个月前
已完结
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
2个月前
已完结
An inordinate fondness for beetles
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