Lv4
600 积分 2023-07-05 加入
Intracerebral hemorrhage as the sole manifestation of COL4A1/A2 duplications
6个月前
已完结
Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis
10个月前
已完结
A comprehensive CFTR mutation analysis of German cystic fibrosis patients
10个月前
已完结
Comprehensive Cystic Fibrosis Mutation Epidemiology and Haplotype Characterization in a Southern Italian Population
10个月前
已完结
The Suitability of Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry in a Laboratory Developed Test Using Cystic Fibrosis Carrier Screening as a Model
10个月前
已完结
Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations
10个月前
已完结
Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity
10个月前
已关闭
502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds
10个月前
已完结
An untargeted metabolomic strategy based on liquid chromatography-mass spectrometry to study high glucose-induced changes in HK-2 cells
11个月前
已完结
[Analysis of 12 cases with methylmalonicacidemia cblA type]
11个月前
已完结
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