Search
Add filters:
Use filters to refine the search results.
Item hits:
Issue Date | Title | Author(s) |
---|---|---|
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 |
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 |
1-Dec-2018 | Functional characterization of a GGPPS variant indentified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types | Roca Ayats, Neus; Ng, Pei Ying; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Diez Pérez, Adolfo |
10-Feb-2020 | Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Urreizti, Roser; López-Martin, Estrella; Martínez-Monseny, Antonio; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez-Jurado, Luis Alberto; Serrano, Mercedes; Natera de Benito, Daniel; Martínez-Delgado, Beatriz; Posada-de-la-Paz, Manuel; Alonso, Javier; Marin-Reina, Purificación; O'Callaghan, Mar; Grinberg Vaisman, Daniel Raúl; Bermejo-Sánchez, Eva; Balcells Comas, Susana |
4-May-2017 | GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates | Roca Ayats, Neus; Balcells Comas, Susana; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Martinez-Gil, Nuria; Abril Ferrando, Josep Francesc, 1970-; Urreizti, Roser; Dopazo, Joaquin; Quesada Gómez, José Manuel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Prieto-Alhambra, Daniel; Dunford, James E.; Javaid, Muhammad K.; Russell, R. Graham; Grinberg Vaisman, Daniel Raúl; Diez Pérez, Adolfo |
24-Dec-2014 | Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations | Matos, Liliana; Canals Montferrer, Isaac; Dridi, Larbi; Choi, Yoo; Prata, Maria Joao; Jordan, Peter; Desviat, Lourdes R.; Pérez, Belén; Pshezhetsky, Alexey V.; Grinberg Vaisman, Daniel Raúl; Alves, Sandra; Vilageliu i Arqués, Lluïsa |
12-Jan-2018 | A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome | Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
2015 | EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome | Canals Montferrer, Isaac; Benetó, Noelia; Cozar, Mónica; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl |
15-Apr-2014 | Genetic analysis of high bone mass cases from the BARCOS cohort of spanish postmenopausal women | Sarrión Pérez-Caballero, Patricia; Mellibovsky, Leonardo; Urreizti, Roser; Civit Vives, Sergi; Cols Coll, Neus; Garcia Giralt, Natàlia; Yoskovitz, Guy; Aranguren, Alvaro; Malouf, Jorge; Di Gregorio, Silvana; Río, Luis del; Güerri-Fernández, Robert; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
18-Sep-2014 | A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDG | Delgado, M. A.; Martinez-Domenech, G.; Sarrión Pérez-Caballero, Patricia; Urreizti, Roser; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson de Kremer, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Asteggiano, Carla |
Discover
Subject