1. Dipòsit Digital de la Universitat de Barcelona

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Results 1-10 of 41 (Search time: 0.037 seconds).
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Issue DateTitleAuthor(s)
22-Feb-2019Case report of a child bearing a novel deleterious splicing variant in PIGTManson, Samantha; Castilla Vallmanya, Laura; Con, James; Andrews, P. Ian; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Kirk, E.P.; Urreizti, Roser
10-Jun-2018The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndromeUrreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
13-Jan-2022Wnt pathway extracellular components and their essential roles in bone homeostasisMartínez-Gil, Núria; Ugartondo, Nerea; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
1-Sep-2020Improved diagnosis of rare disease patients through systematic detection of runs of homozygosityMatalonga Borrel, Lesley; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert Jan; Lochmüller, Hanns; Beltrán, Sergi; RD-Connect Genome-Phenome Analysis Platform and UR; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria
9-Jul-2021Functional Analyses of four CYP1A1 missense mutations present in patients with atypical femoral fracturesUgartondo Asensio, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero, Diana; Nogués Solán, Xavier; Díez Pérez, Adolfo; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
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
2021La variante missensers2908004 de WNT16 actúa como eQTL de FAM3C en osteoblastos primarios humanosMartínez-Gil, Núria; Patiño, Juan David; Ugartondo Asensio, Nerea; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
13-Aug-2021A Roadmap to gene discoveries and novel therapies in monogenic low and high bone mass disordersFormosa, Melissa M.; Bergen, Dylan J.M.; Gregson, Celia L.; Maurizi, Antonio; Kämpe, Anders; Garcia Giralt, Natàlia; Zhou, Wei; Grinberg Vaisman, Daniel Raúl; Ovejero Crespo, Diana; Zillikens, M. Carola; Williams, Graham R.; Bassett, J.H. Duncan; Brandi, Maria Luisa; Sangiorgi, Luca; Balcells Comas, Susana; Högler, Wolfgang; Van Hul, Wim; Mäkitie, Outi; GEMSTONE Working Group 3 COST Action
Jan-2020Extending the phenotypic spectrum of Bohring-Opitz syndrome: mild case confirmed by functional studiesLeon, Eyby; Diaz, Jullianne; Castilla-Vallmanya, Laura; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser
30-Nov-2021Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling TechniquesRauner, Martina; Foessl, Ines; Formosa, Melissa M.; Kague, Erika; Prijatelj, Vid; Alonso-Lopez, Nerea; Banerjee, Bodhisattwa; Bergen, Dylan; Busse, Björn; Calado, Ângelo; Douni, Eleni; Gabet, Yankel; Garcia Giralt, Natàlia; Grinberg Vaisman, Daniel Raúl; Lovsin, Nika M.; Nogués Solán, Xavier; Ostanek, Barbara; Pavlos, Nathan J.; Rivadeneira, Fernando; Soldatovic, Ivan; van de Peppel, Jeroen; van der Eerden, Bram; van Hul, Wim; Balcells Comas, Susana; Marc, Janja; Reppe, Sjur; Soe, Kent; Karasik, David

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