Lv4
760 积分 2024-09-11 加入
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
1天前
待确认
Updated mutational spectrum and genotype–phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
2天前
已完结
Site-specific therapy guided by a 90-gene expression assay versus empirical chemotherapy in patients with cancer of unknown primary (Fudan CUP-001): a randomised controlled trial
2天前
已完结
Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients
6天前
已完结
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
6天前
已完结
Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt
6天前
已完结
Omenn Syndrome with Mutation in RAG1 Gene
7天前
已完结
Multi-Dimensional Fragmentomics Enables Early and Accurate Detection of Colorectal Cancer
17天前
已完结
Haplotype-Assisted Noninvasive Prenatal Diagnosis of Genetic Diseases by Massively Parallel Sequencing of Maternal Plasma Cell-Free DNA
30天前
已完结
Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam
1个月前
已完结
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