Lv15
70 积分 2024-10-25 加入
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
3小时前
待确认
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to <b><i>USH2A</i></b> Genetic Variants
1天前
已完结
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
1天前
已完结
Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms
11天前
已完结
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
11天前
已完结
Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency
11天前
已完结
Estimation of the total number of disease‐causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential
11天前
已完结
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G
13天前
已完结
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency
13天前
已完结
[Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria]
20天前
已完结
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