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Page 1
Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.
Martínez-Gil N, Roca-Ayats N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Martínez-Gil N, et al. Among authors: roca ayats n. JBMR Plus. 2020 Nov 2;4(12):e10423. doi: 10.1002/jbm4.10423. eCollection 2020 Dec. JBMR Plus. 2020. PMID: 33354644 Free PMC article.
Bone development and remodeling in metabolic disorders.
Serra-Vinardell J, Roca-Ayats N, De-Ugarte L, Vilageliu L, Balcells S, Grinberg D. Serra-Vinardell J, et al. Among authors: roca ayats n. J Inherit Metab Dis. 2020 Jan;43(1):133-144. doi: 10.1002/jimd.12097. Epub 2019 Apr 29. J Inherit Metab Dis. 2020. PMID: 30942483 Review.
Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.
Roca-Ayats N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg D, Balcells S, Díez-Pérez A. Roca-Ayats N, et al. J Bone Miner Res. 2018 Dec;33(12):2091-2098. doi: 10.1002/jbmr.3580. Epub 2018 Sep 24. J Bone Miner Res. 2018. PMID: 30184270 Free article.
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.
Roca-Ayats N, Balcells S, Garcia-Giralt N, Falcó-Mascaró M, Martínez-Gil N, Abril JF, Urreizti R, Dopazo J, Quesada-Gómez JM, Nogués X, Mellibovsky L, Prieto-Alhambra D, Dunford JE, Javaid MK, Russell RG, Grinberg D, Díez-Pérez A. Roca-Ayats N, et al. N Engl J Med. 2017 May 4;376(18):1794-1795. doi: 10.1056/NEJMc1612804. N Engl J Med. 2017. PMID: 28467865 Free article. No abstract available.
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Among authors: roca ayats n. Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Sci Rep. 2017. PMID: 28281571 Free PMC article.
11 results