Browsing by Author "5b78a05c-f1dd-4b5c-acdc-5b39249221e6"
Now showing items 1-3 of 3
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Rojas, Cecilia V.; Santa María, Lorena; Santos, José Luis; Cortés, Fanny; Alliende, María Angélica (2002)Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in ...
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Faundes, Víctor; Santa María, Lorena; Aliaga, Solange; Curotto, Bianca; Pugin, Angela; Alliende, María Angélica (Wiley-Liss Inc., 2015)
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Faúndes Gómez, Víctor; Salas, Isabel; Correa Burrows, Paulina; Soto Reyes, Paula; Peña, María Ignacia; Pugin, Angela; Bravo, Paulina; Santa María Vásquez, Lorena; Morales, Paulina; Curotto, Bianca; Aliaga, Solange; Alliende, María Angélica (Wiley, 2018)The study aim was to evaluate the administration and achievements of a Fragile X syndrome (FXS) centre in Chile. Families with children with FXS who sought care at our centre (CDTSXF) answered a survey to evaluate parent ...