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188 积分 2024-11-25 加入
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Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder
10天前
已完结
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis
23天前
已完结
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis
23天前
已完结
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis
23天前
已完结
Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A
23天前
已完结
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis
24天前
已完结
Pathogenicity analysis of ATP7B in pediatric patients with Wilson’s disease and functional verification of alternative splice variants
28天前
已完结
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation
1个月前
已完结
Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations
1个月前
已完结
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
1个月前
已完结
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