Lv5
1532 积分 2024-06-13 加入
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
9天前
已完结
Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit
1个月前
已完结
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males
1个月前
已关闭
Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing
1个月前
已完结
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
1个月前
已完结
应用高通量基因捕获技术寻找非综合征型耳聋新的热点突变
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
1个月前
已完结
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
2个月前
已完结
皖公网安备34019202002308
