Associated Papers
First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.
Parvini F et al.
Orphanet Journal of Rare Diseases, 2025
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
De Biase I et al.
Clinical Chemistry, 2021
Whole-exome sequencing reveals the origin and evolution of hepato-cholangiocarcinoma.
Wang A et al.
Nature Communications, 2018
29497050 (PubMed )
Supplement: 41467_2018_3276_MOESM5_ESM.xlsx › ___1
Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole-exome sequencing.
Zamò A et al.
Leukemia, 2018
28824170 (PubMed )
Supplement: 41375_2018_BFleu2017270_MOESM101_ESM.xlsx › S_Table_3b
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
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