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Lista de obras de Natàlia Padilla Sirera

BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

artículo científico publicado en 2019

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.

artículo científico

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

artículo científico publicado en 2017

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

artículo científico publicado en 2017

Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear cells

artículo científico publicado en 2018

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

scientific article published on 24 July 2018

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

artículo científico publicado en 2021

Novel Mutations Causing C5 Deficiency in Three North-African Families.

artículo científico publicado en 2016

SeMPI: a genome-based secondary metabolite prediction and identification web server

artículo científico publicado en 2017

The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions

artículo científico publicado en 2016

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