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List of works by Maria Rigau

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

scientific article published on 15 January 2021

Degradable glycine-based photo-polymerizable polyphosphazenes for use as scaffolds for tissue regeneration

scientific article published on 30 October 2014

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

scientific article published on 15 April 2015

Intronic CNVs and gene expression variation in human populations

article

Intronic CNVs cause gene expression variation in human population

article

Loose ends: almost one in five human genes still have unresolved coding status

scientific article published on 01 August 2018

Loose ends: almost one in five human genes still have unresolved coding status

scientific article published on 01 December 2018

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

scientific article published in 2024

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