Browsing by Author Grinberg Vaisman, Daniel Raúl
Showing results 40 to 59 of 87
< previous
next >
| Issue Date | Title | Author(s) |
|---|---|---|
| 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. |
| 13-Dec-2012 | Finding genes related to homologous recombination as modifiers of the number of dermal neurofibromas in neurofibromatosis type 1 patients / Estudi sobre la implicació dels gens de recombinació homòloga com a modificadors del nombre de neurofibromes dèrmics en pacients amb Neurofibromatosi tipus 1 | Garcia Linares, Carles |
| 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 |
| 18-Sep-2017 | Functional analyses of candidate genes for osteoporosis : RUNX2 and LRP5 interplay during differentiation of the hFOB human osteoblast cell line | Gholami, Behjat |
| 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 |
| 12-Dec-2020 | Functional assessment of coding and regulatory variants from the DKK1 locus | Martínez-Gil, Núria; Roca Ayats, Neus; Atalay, Nurgül; Pineda Moncusí, Marta; Garcia Giralt, Natàlia; Van Hul, Wim; Boudin, Eveline; Ovejero, Diana; Mellibovsky, Leonardo; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susan |
| 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 |
| 14-Mar-2019 | Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3. | Roca Ayats, Neus; Martínez-Gil, Núria; Cozar, Mónica; Gerousi, Marina; Garcia Giralt, Natàlia; Ovejero, Diana; Mellibovsky, Leonardo; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 2-Jun-2020 | Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece | Dimitriou, Evangelia; Moraitou, Marina; Cozar, Mónica; Serra Vinardell, Jenny; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Mavridou, Irene; Michelakakis, Helen |
| 1-Jan-2022 | Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment | Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc, 1970-; Martínez-Gil, Núria; Ovejero, Diana; Castañeda, Santos; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Rabionet Janssen, Raquel |
| 18-Sep-2015 | Generació d'un model cel·lular osteoblàstic i aproximacions terapèutiques per a la malaltia de Gaucher | Serra Vinardell, Jenny |
| 24-Oct-2019 | Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome | Benetó, Noelia; Cozar, Mónica; García-Morant, María; Creus-Bachiller, Edgar; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
| Jan-2020 | Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome | Benetó, Noelia; Cozar, Mónica; Gort i Mas, Laura; Pacheco, Laura; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
| 2022 | Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci | Martínez-Gil, Núria; Ovejero, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués, Xavier; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 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 |
| 23-Jan-2015 | Genetic and molecular analysis or Sanfilippo C syndrome. Generation of a neuronal model using human induced pluripotent stem (iPS) cells and therapeutic strategies | Canals Montferrer, Isaac |
| 1-Nov-2018 | Genetic study of atypical femoral fractures using exome sequencing in three affected sisters and three unrelated patients | Roca Ayats, Neus; Falcó-Mascaró, Maite; Garcia Giralt, Natàlia; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Diez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 6-Jan-2021 | Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblasts | Martínez-Gil, Núria; Roca Ayats, Neus; Cozar, Mónica; Garcia Giralt, Natàlia; Ovejero, Diana; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; 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 |
| 21-Apr-2011 | Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients | Cozar, Mónica; Urreizti, Roser; Vilarinho, Laura; Grosso, Carola; Dodelson de Kremer, Raquel; Asteggiano, Carla; Dalmau Obrador, Josep; García, Ana; Vilaseca, María; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |