Lisbeth C. Silva
Porto, 4000055, Portugal
Last Updated: 09/26/2026
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Found 8 publications
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Journal: International journal of molecular sciences
Published: July 29, 2020
Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.
Journal: Diagnostics (Basel, Switzerland)
Published: December 13, 2019
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Journal: Mitochondrion
Published: October 23, 2018
A genome-wide scan for selection signatures in Nellore cattle.
Journal: Animal genetics
Published: July 15, 2014
Genome scan for meat quality traits in Nelore beef cattle.
Journal: Physiological genomics
Published: September 12, 2013
Candidate genes for production traits in Nelore beef cattle.
Journal: Genetics and molecular research : GMR
Published: October 20, 2012
A SNP in ASAP1 gene is associated with meat quality and production traits in Nelore breed.
Journal: Meat science
Published: October 25, 2011
Showing 1-8 of 8
Last Updated: 09/26/2026