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1820 积分 2023-12-13 加入
Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights
27分钟前
已关闭
MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study
1天前
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MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study
1天前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
2个月前
已完结
[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]
2个月前
已完结
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
2个月前
已完结
A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing
3个月前
已完结
Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations
4个月前
已完结
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
5个月前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
6个月前
已完结
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