Roser Urreizti

12PUBLICATIONS
81CO-AUTHORS
Cell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)Statistical mechanics in chemistryGene and molecular therapyMolecular medicine
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Publications (12)

|Apr 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Roser Urreizti, Jessica Vissicchio, Mohamed Idries

|Apr 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano

|Jun 25, 2024
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1.

Xinyu Cao, Madryn Lake, Gerd Van der Hoeven

|Mar 28, 2024
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson

|Feb 05, 2024
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.

Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti

|Sep 28, 2023
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol

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Frequent Collaborators

4 joint publications

Mercedes Serrano

3 joint publications

Abraham J Paredes-Fuentes

3 joint publications

Raquel Rabionet

3 joint publications

Rafael Artuch