Lv11
30 积分 2024-08-14 加入
Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism
11小时前
求助中
Genetic investigation of patients with tall stature
6天前
已关闭
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
13天前
已完结
Identification of 5 novel mutations in the AGXT gene
13天前
已完结
FSIP2plays a role in the acrosome development during spermiogenesis
13天前
已完结
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants
18天前
已完结
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
21天前
已完结
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients
25天前
已完结
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss
1个月前
已完结
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
1个月前
已完结
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