Lv1
28 积分 2022-11-17 加入
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
6天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
7天前
已完结
Novel variants in ABCA4-related retinopathies with structural re-assessment of variants of uncertain significance
8天前
已完结
Central nervous system involvement in adults with haemophagocytic lymphohistiocytosis: a single-center study
8天前
已完结
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
14天前
已完结
Enriched NKX2-1 Mutations in Bronchiolar Adenoma Variants: Evidence for Malignant Transformation or an Indolent Entity
14天前
已完结
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
19天前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
21天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
21天前
已完结
[Analysis of genetic variant in a child with autosomal recessive Alport syndrome]
22天前
已完结
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