Lv61
3020 积分 2023-09-20 加入
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]
21小时前
已完结
Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene
4天前
已关闭
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
12天前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
19天前
已完结
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia
21天前
已完结
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism
21天前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
21天前
已完结
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
22天前
已完结
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
25天前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
25天前
已完结
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