Author

Abraham José Paredes-Fuentes

Hospital Sant Joan de Déu BarcelonaORCID 0000-0002-7163-2385Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Afshin FayaziiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Àngels García‐CazorlaiD· 1 shared Anna CodinaiD· 1 shared Antònia RibesiD· 1 shared Bryn D. WebbiD· 1 shared Carlos Santos‐OcañaiD· 1 shared Christopher J. CarrolliD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Afshin FayaziORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 27, 2024

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian…·Roser Urreizti

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

DOI 10.1101/2024.11.27.24317634

humanbulk RNA-seq