Raquel Rabionet

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 55 publications

Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome.

Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome.

Journal: Stroke

Published: June 11, 2025

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Journal: American journal of medical genetics. Part A

Published: March 13, 2025

Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.

Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: October 20, 2024

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: October 14, 2024

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Journal: Human genomics

Published: May 23, 2024

Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.

Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2024

Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.

Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.

Journal: Nature genetics

Published: March 13, 2024

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

Journal: Journal of medical genetics

Published: January 22, 2024

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Journal: Pediatric neurology

Published: December 20, 2023

A perspective on muscle phenotyping in musculoskeletal research.

A perspective on muscle phenotyping in musculoskeletal research.

Journal: Trends in endocrinology and metabolism: TEM

Published: October 30, 2023

Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis.

Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis.

Journal: Cell death discovery

Published: October 17, 2023

High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome.

High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome.

Journal: Journal of clinical laboratory analysis

Published: September 20, 2022

Showing 1-12 of 55

Last Updated: 09/26/2026