Lv2
196 积分 2026-04-22 加入
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations
4天前
已关闭
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility
10天前
已完结
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
11天前
已完结
[Gene Mutants and Their Clinical Characteristics of G6PD Deficiency Among Children in Luzhou Area]
17天前
已关闭
Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family
17天前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
22天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
28天前
已完结
[Clinical and genetic analysis of a case with Thiamine metabolism dysfunction syndrome 5]
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
1个月前
已完结
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