Sebastian Menazzi
General San Martin, B, Argentina
Last Updated: 09/26/2026
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Found 12 publications
Bioinformatics Architecture for Integrating Genomics Data into Electronic Health Records.
Journal: Studies in health technology and informatics
Published: January 25, 2024
Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C
Journal: Medicina
Published: August 15, 2023
Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin.
Journal: Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
Published: April 22, 2023
Development, Implementation and Initial Results of CDSS Recommendations for Patients at Risk of Hereditary Breast Cancer.
Journal: Studies in health technology and informatics
Published: June 08, 2022
Multiomix: a cloud-based platform to infer cancer genomic and epigenomic events associated with gene expression modulation.
Journal: Bioinformatics (Oxford, England)
Published: June 07, 2021
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Journal: Genes
Published: September 18, 2020
Analysis of complex structural variants in the DMD gene in one family.
Journal: Neuromuscular disorders : NMD
Published: July 07, 2020
First custom next-generation sequencing infertility panel in Latin America: design and first results.
Journal: JBRA assisted reproduction
Published: March 11, 2020
Showing 1-12 of 12
Last Updated: 09/26/2026