Browsing by Author Grinberg Vaisman, Daniel Raúl
Showing results 19 to 38 of 87
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| Issue Date | Title | Author(s) |
|---|---|---|
| 2-Mar-2019 | C syndrome - what do we know and what could the future hold? | Urreizti, Roser; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 31-Mar-2006 | Caracterització de mutacions causants de la malaltia de Gaucher. Aproximació a una teràpia gènica. | Diaz Font, Anna |
| 17-Jul-2015 | Caracterización molecular y búsqueda de causas genéticas del cáncer colorrectal hereditario no polipósico | Bellido Molías, Fernando |
| 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 |
| 29-Sep-2009 | Càncer colorectal hereditari: Aplicacions diagnòstiques de l'estudi de la dosi dels gens APC, MLH1 i MSH2 | Castellsagué Torrents, Ester |
| 8-May-2014 | Cholesterol regulates Syntaxin 6 trafficking at the TGN-endosomal boundaries | Reverter Martín, Meritxell; Rentero Alfonso, Carles; Garcia Melero, Ana; Hoque, Monira; Vilà de Muga, Sandra; Alvarez-Guaita, Anna; Conway, James; Wood, Peta; Cairns, Rose; Lykopoulou, Lila; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Bosch i Rodríguez, Marta; Heeren, Joerg; Blasi Cabús, Joan; Timpson, Paul; Pol i Sorolla, Albert; Tebar Ramon, Francesc; Murray, Rachael Z.; Grewal, Thomas |
| 2022 | Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions | Ovejero, Diana; Garcia-Giralt, Natalia; Rabionet Janssen, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Pérez-Jurado, Luis; Nogués, Xavier; Etxebarria Foronda, Iñigo |
| 19-Jul-2018 | Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density | Martínez-Gil, Núria; Roca Ayats, Neus; Monistrol-Mula, A.; Garcia Giralt, Natàlia; Díez Pérez, Adolfo; Nogués Solán, Xavier; Mellibovsky, Leonardo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 18-Jul-2011 | Contribució de la proteïna circulant sCD40L i dels inhibidors solubles del complement en el desenvolupament del procés immunoinflamatori. | Olivar Miró, Rut |
| 16-Apr-2022 | CRISPR/Cas9-mediated allele-specific disruption of a dominant COL6A1 pathogenic variant improves collagen VI network in patient fibroblasts | López-Márquez, Arístides; Morín, Matías; Fernández-Peñalver, Sergio; Badosa, Carmen; Hernández-Delgado, Alejandro; Natera-de Benito, Daniel; Ortez, Carlos; Nascimento, Andrés; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Roldán Molina, Mònica; Moreno-Pelayo, Miguel Ángel; Jiménez-Mallebrera, Cecilia |
| 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 |
| 4-Feb-2021 | De Novo PORCN and ZIC2 mutations in a highly consanguineous family | Castilla Vallmanya, Laura; Gürsoy, Semra; Giray Bozkaya, Özlem; Prat Planas, Aina; Bullich, Gemma; Matalonga Borrel, Lesley; Centeno Pla, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
| 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 |
| 20-Apr-2020 | Effect of the tumor suppressor miR-320a on viability and functionality of human osteosarcoma cell lines compared to primary osteoblasts | De-Ugarte, Laura; Balcells Comas, Susana; Güerri Fernández, Robert; Grinberg Vaisman, Daniel Raúl; Diez-Perez, Adolfo; Nogués Solán, Xavier; Garcia Giralt, Natàlia |
| 19-Feb-2016 | Elucidating the molecular basis of Lynch-Like syndrome | Vargas Parra, Gardenía María |
| 19-Jul-2013 | Estudio genético de dos fenotipos óseos: osteocondromatosis múltiple y alta masa ósea | Sarrión Pérez-Caballero, Patricia |
| 2018 | Estudios funcionales de variantes de DKK1 presentes en la población general | Martínez-Gil, Núria; Roca Ayats, Neus; Vilardell, M.; Civit Vives, Sergi; Urreizti, Roser; Garcia Giralt, Natàlia; Mellibovsky, Leonardo; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 18-Sep-2007 | Estudis d'associació i funcionals en gens candidats per a l'osteoporosi | Bustamante Pineda, Mariona |
| 19-Aug-2015 | Evaluation of aminoglycoside and non-aminoglycoside compounds for stop-codon readthrough therapy in four lysosomal storage diseases | Gómez Grau, Marta; Garrido Fernández, Elena; Cozar, Mónica; Rodríguez Sureda, Víctor; Domínguez, Carmen; Arenas Solà, Concepción; Gatti, Richard A; Cormand Rifà, Bru; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa |
| 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 |