RAQUEL
SÁEZ VILLAVERDE
Publikationen (12) Publikationen von RAQUEL SÁEZ VILLAVERDE
2022
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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
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Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant
Clinical Genetics
2021
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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
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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
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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
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2015
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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
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Raquitismo hipofosfatémico hereditario con hipercalciuria: A propósito de un caso
Nefrologia, Vol. 32, Núm. 4, pp. 529-534
1998
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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
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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
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Oligoartritis séptica por Streptobacillus moniliformis (fiebre por mordedura de rata).
Revista clínica española