Lv1
24 积分 2023-12-27 加入
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene
20小时前
已完结
[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases]
2天前
已完结
Characterization of Novel Splicing Mutations and a Recurrent Deletion in COLQ Congenital Myasthenic Syndrome
2天前
已完结
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen
5天前
已完结
Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene
27天前
已完结
Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene
27天前
已完结
Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report
1个月前
已完结
Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
1个月前
已完结
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series
1个月前
已完结
Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families
1个月前
已完结
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