Lv3
290 积分 2025-02-27 加入
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients
1天前
待确认
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
2天前
已完结
Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy
2天前
已完结
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening
6天前
已关闭
High incidence of the CFTR mutations 3272-26A→G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A→G, E588V, and 1671insTATCA)
6天前
已完结
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea
8天前
已完结
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia
12天前
已完结
Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
20天前
已完结
Mucolipidosis type IV: Clinical manifestations and natural history
20天前
已完结
Mucolipidosis type IV: An update
20天前
已关闭
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