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Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants by Vasileios Toulis, Vianney Cortés-González, Marta de Castro-Miró, Juliana Ferraz Sallum, Jaume Català-Mora, Cristina Villanueva-Mendoza, Marcela Ciccioli, Roser Gonzàlez-Duarte, Rebeca Valero, Gemma Marfany
Published 2020-03-01
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Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype by Anna Esteve-Garcia, Estefania Cobos, Cristina Sau, Ariadna Padró-Miquel, Jaume Català-Mora, Pilar Barberán-Martínez, Pilar Barberán-Martínez, José M. Millán, José M. Millán, José M. Millán, José M. Millán, Gema García-García, Gema García-García, Gema García-García, Cinthia Aguilera
Published 2024-02-01
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Follow‐up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients by Maria Cuadrado‐Vilanova, Victor Burgueño, Leire Balaguer‐Lluna, Rosario Aschero, Helena Castillo‐Ecija, Jing Liu, Sara Perez‐Jaume, Guillem Pascual‐Pasto, Nagore G Olaciregui, Soledad Gomez‐Gonzalez, Genoveva Correa, Mariona Suñol, Paula Schaiquevich, François Radvanyi, Cinzia Lavarino, Jaume Mora, Jaume Catala‐Mora, Guillermo L Chantada, Angel M Carcaboso
Published 2023-01-01
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