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2019 4
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2023 1
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
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: balcells s. 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.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R. Castilla-Vallmanya L, et al. Among authors: balcells s. J Med Genet. 2023 Apr;60(4):406-415. doi: 10.1136/jmg-2022-108690. Epub 2022 Sep 7. J Med Genet. 2023. PMID: 36243518 Free PMC article.
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg D, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W, Mäkitie O. Formosa MM, et al. Among authors: balcells s. Front Endocrinol (Lausanne). 2021 Aug 13;12:709711. doi: 10.3389/fendo.2021.709711. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34539568 Free PMC article. Review.
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.
Rauner M, Foessl I, Formosa MM, Kague E, Prijatelj V, Lopez NA, Banerjee B, Bergen D, Busse B, Calado Â, Douni E, Gabet Y, Giralt NG, Grinberg D, Lovsin NM, Solan XN, Ostanek B, Pavlos NJ, Rivadeneira F, Soldatovic I, van de Peppel J, van der Eerden B, van Hul W, Balcells S, Marc J, Reppe S, Søe K, Karasik D. Rauner M, et al. Among authors: balcells s. Front Endocrinol (Lausanne). 2021 Nov 30;12:731217. doi: 10.3389/fendo.2021.731217. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34938269 Free PMC article. Review.
Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder.
Domènech L, Willis J, Alemany-Navarro M, Morell M, Real E, Escaramís G, Bertolín S, Sánchez Chinchilla D, Balcells S, Segalàs C, Estivill X, Menchón JM, Gabaldón T, Alonso P, Rabionet R. Domènech L, et al. Among authors: balcells s. Sci Rep. 2022 Jan 27;12(1):1448. doi: 10.1038/s41598-022-05480-9. Sci Rep. 2022. PMID: 35087123 Free PMC article.
27 results