Maria Satta-Alvarez
Vigo, GA 36310, Spain
Last Updated: 09/26/2026
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Found 9 publications
Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.
Journal: Scientific reports
Published: November 28, 2018
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).
Journal: Frontiers in molecular biosciences
Published: May 25, 2017
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
Journal: Journal of cellular and molecular medicine
Published: November 18, 2016
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.
Journal: Scientific reports
Published: October 21, 2016
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
Journal: Journal of medical genetics
Published: March 02, 2015
Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain
Journal: Medicina clinica
Published: January 30, 2014
Bardet-Biedl syndrome: A rare genetic disease.
Journal: Journal of pediatric genetics
Published: June 01, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026