Lv21
120 积分 2024-04-24 加入
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
1小时前
待确认
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
1小时前
已完结
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria
4天前
已完结
SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita
1个月前
已完结
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
1个月前
已完结
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family
2个月前
已关闭
Genomic basis of syndromic short stature in an Algerian patient cohort
2个月前
已完结
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