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  1. Chacon-Camacho, Oscar F. [Author]; Lopez-Moreno, Daniel [Author]; Morales-Sanchez, Martha A. [Author]; Hofmann, Enriqueta [Author]; Pacheco-Quito, Michelle [Author]; Wieland, Ilse [Author]; Cortes-Gonzalez, Vianney [Author]; Villanueva-Mendoza, Cristina [Author]; Zenker, Martin [Author]; Zenteno, Juan Carlos [Author]

    Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

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    2019

    Published in: Molecular genetics & genomic medicine ; Bd. 7.2019, 5, Art.-Nr. e625, insges. 12 S.

  2. Treviño-Herrera, Alan Baltazar; Bustamante-Vargas, Ana Patricia; Lisker-Cervantes, Andrés; Ríos Y Valles Valles, Dolores; Villanueva-Mendoza, Cristina; González-Duarte, Alejandra; Concha-Del-Río, Luz Elena

    Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant

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    Informa UK Limited, 2022

    Published in: Ophthalmic Genetics

  3. Toulis, Vasileios; Cortés-González, Vianney; de Castro-Miró, Marta; Ferraz Sallum, Juliana; Català-Mora, Jaume; Villanueva-Mendoza, Cristina; Ciccioli, Marcela; Gonzàlez-Duarte, Roser; Valero, Rebeca; Marfany, Gemma

    Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

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    MDPI AG, 2020

    Published in: Genes

  4. Hernández-Martínez, Nancy; González-del Angel, Ariadna; Alcántara-Ortigoza, Miguel Angel; González-Huerta, Luz M.; Cuevas-Covarrubias, Sergio A.; Villanueva-Mendoza, Cristina

    Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients

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    Informa UK Limited, 2018

    Published in: Ophthalmic Genetics