Lv11
44 积分 2023-01-05 加入
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
2小时前
待确认
Adult-onset Niemann-Pick disease type C presenting as progressive chorea mimicking Huntington's disease
12天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
17天前
已完结
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
24天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype
1个月前
已关闭
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression
1个月前
已关闭
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
1个月前
已完结
Expanding the Phenotypic Spectrum of INTS11-Related Neurodevelopmental Disorder
2个月前
已完结
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