Raquel Villaverde-Saez
San Sebastian, PV, Spain
Last Updated: 09/26/2026
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Found 10 publications
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: December 11, 2024
Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients.
Journal: Advances in laboratory medicine
Published: June 30, 2024
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Journal: Ophthalmic genetics
Published: January 25, 2023
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
Journal: Clinical genetics
Published: July 31, 2021
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 02, 2019
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Journal: Journal of medical genetics
Published: May 02, 2019
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 27, 2019
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
Journal: Journal of medical genetics
Published: April 22, 2015
Hereditary hypophosphatemic rickets with hypercalciuria: case report.
Journal: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
Published: April 22, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026