Associated Papers
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
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Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Aguech A et al.
Metabolic Brain Disease, 2023
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
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Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
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