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50 积分 2023-02-16 加入
SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights
12小时前
已完结
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]
15小时前
已完结
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy
14天前
已完结
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X‐linked agammaglobulinemia
19天前
已完结
[Analysis of FBN1 gene mutations in two pedigrees affected with Marfan syndrome]
1个月前
已完结
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
1个月前
已完结
Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies
1个月前
已完结
Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7
1个月前
已完结
[Nontuberculous mycobacteria infection and pulmonary alveolar proteinosis in a patient with hematopoietic defects]
2个月前
已完结
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