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2023-08-18 加入
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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
1小时前
待确认
Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL
2小时前
已完结
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
2天前
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Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions
5天前
已完结
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions
5天前
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Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family
6天前
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Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies
7天前
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COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus
7天前
已完结
Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing
7天前
已关闭
Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation
11天前
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