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Navegación por Autor Raymond, F. L.
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openAccess | | 2018 | Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm Its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome | Villate Bejarano, Olatz; Ibarluzea, Nekane; Fraile-Bethencourt, Eugenia CSIC ORCID; Valenzuela-Palomo, Alberto CSIC; Velasco, Eladio CSIC ORCID ; Grozeva, Detelina; Raymond, F. L.; Botella, María P.; Tejada, María Isabel | artículo |