Associated Papers
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.
Shaheen R et al.
Clinical Genetics, 2011
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.
Rosewich H et al.
Neuropediatrics, 2006
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