Lv12
40 积分 2025-01-07 加入
[Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy]
2小时前
已关闭
[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1]
3天前
已完结
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
4天前
已完结
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
4天前
已完结
Genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects identified by phenotyping for trimethylaminuria and found in a database of genome resources
6天前
已完结
Further survey of genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found in an updated database of genome resources and identified by phenotyping for trimethylaminuria
6天前
已完结
Frequency and molecular basis of CD36 deficiency among platelet donors in Kunming, China
8天前
已完结
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
9天前
已完结
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia
9天前
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
10天前
已完结
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