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Issue Date | Title | Author(s) |
---|---|---|
Jan-2020 | Extending the phenotypic spectrum of Bohring-Opitz syndrome: mild case confirmed by functional studies | Leon, Eyby; Diaz, Jullianne; Castilla-Vallmanya, Laura; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
2015 | EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome | Canals Montferrer, Isaac; Benetó, Noelia; Cozar, Mónica; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl |
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