Publicaciones (12) Publicaciones de RAQUEL SÁEZ VILLAVERDE

2022

  1. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

    Ophthalmic genetics, Vol. 43, Núm. 6, pp. 809-816

  2. Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

    Clinical Genetics

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2015

  1. Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

    Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656

2012

  1. Raquitismo hipofosfatémico hereditario con hipercalciuria: A propósito de un caso

    Nefrologia, Vol. 32, Núm. 4, pp. 529-534

1998

  1. Los comienzos del periodismo médico español. "Boletín de Medicina, Cirugía y Farmacia"

    Boletín de la Real Sociedad Bascongada de Amigos del País, Tomo 54, Núm. 2, pp. 509-519

1996

  1. Diabetes gestacional. Marcador de desarrollo de diabetes mellitus. Riesgo de apariciön a los très anos Gestational diabetes. Marker of diabetes mellitus development. Three-year risk of appearance

    Toko-Ginecologia Practica, Vol. 55, Núm. 613, pp. 383-386

  2. Oligoartritis séptica por Streptobacillus moniliformis (fiebre por mordedura de rata).

    Revista clínica española