Lv11
40 积分 2024-02-28 加入
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
1小时前
待确认
Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes
19天前
已完结
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
1个月前
已完结
Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects
1个月前
已完结
A new mutation in the HNF4 binding region of the factor VII promoter in a patient with severe factor VII deficiency
3个月前
已关闭
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System
3个月前
已完结
Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity
3个月前
已完结
The molecular basis of aminoacylase 1 deficiency
3个月前
已完结
Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity
4个月前
已完结
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy
4个月前
已完结
An inordinate fondness for beetles
皖公网安备34019202002308
