Browsing by Author Plasencia, Guillem

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Issue DateTitleAuthor(s)
Jan-2020DPH1 syndrome: Two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsUrreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A.L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg Vaisman, Daniel Raúl; Brinkmann, Ulrich; Webb, Bryn D.; Balcells Comas, Susana