Lv3
340 积分 2026-04-13 加入
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
2天前
已完结
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
4天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
5天前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
5天前
已完结
X‐linked BCOR variants identified in Chinese Han patients with congenital heart disease
9天前
已完结
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic
12天前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
19天前
已完结
Mutational landscape of severe combined immunodeficiency patients from Turkey
1个月前
已完结
Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature
1个月前
已完结
Genetic investigation of patients with tall stature
1个月前
已完结
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