Browsing by Author Grinberg Vaisman, Daniel Raúl
Showing results 48 to 67 of 87
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Issue Date | Title | Author(s) |
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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 |
18-Nov-2019 | Identification and functional characterization of genetic loci involved in osteoporosis and atypical femoral fracture | Roca Ayats, Neus |
16-Apr-2013 | Identification of genetic susceptibility factors for fibromyalgia | Docampo Martínez, Elisa |
25-Nov-2014 | Impacto de las alteraciones moleculares en el pronóstico de la Leucemia Mieloide Aguda (LMA) "de novo" | Hoyos Colell, Montserrat |
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 |
16-Jul-2020 | iPSCs, CRISPR/Cas9 y protocolos de diferenciación basados en factores de transcripción para generar nuevos modelos neuronales y astrocíticos del síndrome de Sanfilippo | Benetó Gandia, Noelia |
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 |
10-Nov-2015 | MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones | De-Ugarte, Laura; Yoskovitz, Guy; Balcells Comas, Susana; Güerri-Fernández, Robert; Martínez-Díaz, Santos; Mellibovsky, Leonardo; Urreizti, Roser; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Garcia Giralt, Natàlia; Díez Pérez, Adolfo |
18-Dec-2015 | Models and therapeutic approaches for Niemann-Pick (A/B and C) and other lysosomal storage disorders | Gomez Grau, Marta |