Search
Add filters:
Use filters to refine the search results.
Item hits:
| Issue Date | Title | Author(s) |
|---|---|---|
| 22-Oct-2020 | Sanfilippo syndrome: molecular basis, disease models and therapeutic approaches | Benetó, Noelia; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
| 8-Jan-2021 | CSVS, a crowdsourcing database of the Spanish population genetic variability | Peña-Chilet, María; Roldán Gema; Perez-Florido, Javier; Ortuño, Francisco M.; Carmona, Rosario; Aquino, Virginia; Lopez-Lopez, Daniel; Loucera, Carlos; Fernandez-Rueda, Jose L.; Gallego, Asunción; García-García, Francisco; González-Neira, Anna; Pita, Guillermo; Núñez-Torres, Rocío; Santoyo-López, Javier; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Gallego-Martinez, Alvaro; Lopez-Escamez, Jose A.; Borrego, Salud; Antiñolo, Guillermo; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Morte, Beatriz; The Spanish Exome Crowdsourcing Consortium; Carracedo Álvarez, Ángel; Alonso, Ángel; Dopazo, Joaquín; Grinberg Vaisman, Daniel Raúl |
| 13-Jan-2022 | Wnt pathway extracellular components and their essential roles in bone homeostasis | Martínez-Gil, Núria; Ugartondo, Nerea; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 1-Sep-2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga 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-2021 | Functional Analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures | Ugartondo 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 |
| 26-Mar-2021 | Soluble Epoxide Hydrolase Inhibition Ameliorates Phenotype and Cognitive Capabilities in a Murine Model of Niemann Pick Disease Type C | Griñán Ferré, Christian; Companys Alemany, Júlia; Jarne, Júlia; Codony Gisbert, Sandra; González Castillo, Celia; Ortuño Sahagún, Daniel; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Vázquez Cruz, Santiago; Pallàs i Llibería, Mercè, 1964- |
| 2022 | Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report | Andrade, Isadora; Ribeiro, River; Carneiro, Zumira A.; Giugliani, Roberto; Pereira, Catarina; Cozma, Claudia; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Lourenco, Charles M. |
| Jan-2020 | DPH1 syndrome: Two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients | Urreizti, 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 |
| 28-Feb-2020 | Neuronal and astrocytic differentiation from Sanfilippo C syndrome iPSCs for disease modeling and drug development | Benetó, Noelia; Cozar, Mónica; Castilla-Vallmanya, Laura; Zetterdahl, Oskar G.; Sacultanu, Madalina; Segur-Bailach, Eulalia; García-Morant, María; Ribes, Antonia; Ahlenius, Henrik; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Canals Montferrer, Isaac |
| 2021 | La variante missensers2908004 de WNT16 actúa como eQTL de FAM3C en osteoblastos primarios humanos | Martínez-Gil, Núria; Patiño, Juan David; Ugartondo Asensio, Nerea; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
Discover
Subject