Browsing by Author Balcells Comas, Susana
Showing results 7 to 26 of 56
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Issue Date | Title | Author(s) |
---|---|---|
20-Sep-2010 | Bases Genètiques de l'Osteoporosi: Estudi del gen "LRP5". | Agueda Calpena, Lídia |
Jan-2020 | Bone development and remodeling in metabolic disorders | Serra Vinardell, Jenny; Roca Ayats, Neus; Ugarte, Laura de; Vilageliu i Arqués, Lluïsa; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
17-May-2021 | Búsqueda de variantes del gen LRP4 en mujeres con alta masa ósea y en pacientes con malformación de Chiari tipo I | Martínez-Gil, Núria; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
2-Mar-2019 | C syndrome - what do we know and what could the future hold? | Urreizti, Roser; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
10-Nov-2015 | Caracterització funcional de dBigH1: la variant germinal i embrionària d'histona H1 a Drosophila | Pérez Montero, Salvador |
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 |
27-Jan-2022 | Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder | Domènech, Laura; Willis, Jesse; Alemany-Navarro, Maria; Morey i Ramonell, Marta; Real, Eva; Escaramís Babiano, Geòrgia; Bertolín, Sara; Sánchez Chinchilla, Daniel; Balcells Comas, Susana; Segalàs Cosi, Cinto; Estivill, Xavier, 1955-; Menchón Magriñá, José Manuel; Gabaldón, Toni; Alonso Ortega, María del Pino; Rabionet Janssen, Raquel |
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 |
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 |
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-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 |
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 |
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 |