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De Novo <i>PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous Family by Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, Aina Prat-Planas, Gemma Bullich, Leslie Matalonga, Mónica Centeno-Pla, Raquel Rabionet, Daniel Grinberg, Susanna Balcells, Roser Urreizti
Published 2021-02-01
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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype by Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Published 2023-09-01
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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree by Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Published 2024-04-01
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