Lv45
682 积分 2024-06-13 加入
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI
1天前
待确认
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation
1天前
已完结
Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI
1天前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
1天前
已完结
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients
3天前
已完结
Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results
4天前
已完结
Genetic analysis of a child with Generalized arterial calcification of infancy due to variant of ABCC6 gene
8天前
已完结
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
8天前
已完结
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
8天前
已完结
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