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List of works by Belén Pérez

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

scientific article published on 03 April 2019

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

scientific article published on 29 June 2017

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

scientific article published on 27 July 2021

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

scientific article

Metabolic Serendipities of Expanded Newborn Screening

scientific article published on 29 August 2020

Pathogenic variants of DNAJC12 and evaluation of the encoded co-chaperone as a genetic modifier of hyperphenylalaninemia

scientific article published on 25 April 2020

Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy

scientific article published on 2 January 2023

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