Associated Papers
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL et al.
European Journal of Human Genetics : Ejhg, 2021
34276053 (PubMed )
Supplement: 41431_2021_933_MOESM1_ESM.docx
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera-Ruiz SM et al.
Orphanet Journal of Rare Diseases, 2019
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.
Ardissone A et al.
Jimd Reports, 2015
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