Cirugía, Pediatría, Obstetricia y Ginecología
Saila
Children's Hospital of Philadelphia
Filadelfia, Estados UnidosChildren's Hospital of Philadelphia-ko ikertzaileekin lankidetzan egindako argitalpenak (3)
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
2014
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Human Molecular Genetics, Vol. 23, Núm. 11, pp. 2888-2900