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28 积分 2024-10-25 加入
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
2天前
已完结
[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia]
2天前
已完结
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
4天前
已完结
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy
4天前
已完结
[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia]
8天前
已完结
[Variant analysis of a patient with dyshormonogenesis due to congenital hypothyroidism]
9天前
已完结
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
10天前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
10天前
已完结
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report
10天前
已完结
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report
11天前
已完结
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