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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: balcells s. JBMR Plus. 2020 Nov 2;4(12):e10423. doi: 10.1002/jbm4.10423. eCollection 2020 Dec. JBMR Plus. 2020. PMID: 33354644 Free PMC article.
Gaucher disease in Spanish patients: analysis of eight mutations.
Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Cormand B, et al. Among authors: balcells s. Hum Mutat. 1995;5(4):303-9. doi: 10.1002/humu.1380050406. Hum Mutat. 1995. PMID: 7627184
Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures.
Jurado S, Nogués X, Agueda L, Garcia-Giralt N, Urreizti R, Yoskovitz G, Pérez-Edo L, Saló G, Carreras R, Mellibovsky L, Balcells S, Grinberg D, Díez-Pérez A. Jurado S, et al. Among authors: balcells s. Osteoporos Int. 2010 Feb;21(2):287-96. doi: 10.1007/s00198-009-0956-4. Epub 2009 May 13. Osteoporos Int. 2010. PMID: 19436932
CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.
Rodríguez-Sanz M, García-Giralt N, Prieto-Alhambra D, Servitja S, Balcells S, Pecorelli R, Díez-Pérez A, Grinberg D, Tusquets I, Nogués X. Rodríguez-Sanz M, et al. Among authors: balcells s. J Mol Endocrinol. 2015 Aug;55(1):69-79. doi: 10.1530/JME-15-0079. Epub 2015 Jun 24. J Mol Endocrinol. 2015. PMID: 26108486
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. Urreizti R, et al. Among authors: balcells s. Eur J Hum Genet. 2020 Jan;28(1):64-75. doi: 10.1038/s41431-019-0374-9. Epub 2019 Mar 15. Eur J Hum Genet. 2020. PMID: 30877278 Free PMC article.
115 results