Lv21
118 积分 2024-10-25 加入
EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support
8小时前
已完结
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia
5天前
已完结
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
11天前
已完结
Pathogenic variants in CASK: Expanding the genotype–phenotype correlations
12天前
已完结
Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants
12天前
已完结
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects
18天前
已完结
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation
18天前
已完结
Phenotypic and molecular features of Thai patients with primary carnitine deficiency
19天前
已完结
Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female
1个月前
已完结
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria
1个月前
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