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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 5
2003 4
2004 1
2005 5
2006 5
2007 1
2008 6
2009 7
2010 12
2011 7
2012 7
2013 13
2014 11
2015 9
2016 10
2017 9
2018 2
2019 4
2020 6
2021 3
2022 5
2023 4
2024 2

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121 results

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Page 1
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF. Calucho M, et al. Among authors: borrego s. Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11. Neuromuscul Disord. 2018. PMID: 29433793
Epigenetic Mechanisms in Hirschsprung Disease.
Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S. Torroglosa A, et al. Among authors: borrego s. Int J Mol Sci. 2019 Jun 26;20(13):3123. doi: 10.3390/ijms20133123. Int J Mol Sci. 2019. PMID: 31247956 Free PMC article. Review.
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.
Genetics of enteric neuropathies.
Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM. Brosens E, et al. Among authors: borrego s. Dev Biol. 2016 Sep 15;417(2):198-208. doi: 10.1016/j.ydbio.2016.07.008. Epub 2016 Jul 15. Dev Biol. 2016. PMID: 27426273 Free article. Review.
What is new about the genetic background of Hirschsprung disease?
Luzón-Toro B, Villalba-Benito L, Torroglosa A, Fernández RM, Antiñolo G, Borrego S. Luzón-Toro B, et al. Among authors: borrego s. Clin Genet. 2020 Jan;97(1):114-124. doi: 10.1111/cge.13615. Epub 2019 Aug 5. Clin Genet. 2020. PMID: 31355911 Review.
Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.
Luzón-Toro B, Fernández RM, Villalba-Benito L, Torroglosa A, Antiñolo G, Borrego S. Luzón-Toro B, et al. Among authors: borrego s. Genes (Basel). 2019 Nov 8;10(11):913. doi: 10.3390/genes10110913. Genes (Basel). 2019. PMID: 31717449 Free PMC article. Review.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
ESR2 Gene and Medullary Thyroid Carcinoma.
Ruiz-Ferrer M, Fernández RM, Navarro E, Antiñolo G, Borrego S. Ruiz-Ferrer M, et al. Among authors: borrego s. Thyroid. 2017 Nov;27(11):1456-1457. doi: 10.1089/thy.2017.0171. Epub 2017 Oct 11. Thyroid. 2017. PMID: 28891392 No abstract available.
121 results