Search
Add filters:
Use filters to refine the search results.
Item hits:
| Issue Date | Title | Author(s) |
|---|---|---|
| 22-Feb-2019 | Case report of a child bearing a novel deleterious splicing variant in PIGT | Manson, Samantha; Castilla Vallmanya, Laura; Con, James; Andrews, P. Ian; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Kirk, E.P.; Urreizti, Roser |
| 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 |
| 14-Oct-2015 | Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks | Canals Montferrer, Isaac; Soriano i Fradera, Jordi; Orlandi, Javier G.; Torrent Juan, Roger; Richaud-Patin, Yvonne; Jiménez-Delgado, Senda; Merlin, Simone; Follenzi, Antonia; Consiglio, Antonella; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Raya Chamorro, Ángel |
| 10-Jun-2018 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome | Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 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- |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |
Discover
Subject
Date issued