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

Year Number of Results
2002 3
2003 5
2005 2
2006 2
2007 2
2008 2
2009 1
2010 5
2011 5
2012 2
2013 4
2014 8
2015 6
2016 12
2017 8
2018 7
2019 3
2020 8
2021 8
2022 5
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87 results
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Page 1
Preparing for the Future of Rare Diseases.
Groft SC, Posada de la Paz M. Groft SC, et al. Among authors: posada de la paz m. Adv Exp Med Biol. 2017;1031:641-648. doi: 10.1007/978-3-319-67144-4_34. Adv Exp Med Biol. 2017. PMID: 29214596 Review.
Fabry Nephropathy: An Evidence-Based Narrative Review.
Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, Hernández D, Luño J, Fernández IM, Paniagua J, Posada de la Paz M, Rodríguez-Pérez JC, Santamaría R, Torra R, Ambros JT, Vidau P, Torregrosa JV. Del Pino M, et al. Among authors: posada de la paz m. Kidney Blood Press Res. 2018;43(2):406-421. doi: 10.1159/000488121. Epub 2018 Mar 16. Kidney Blood Press Res. 2018. PMID: 29558749 Free article. Review.
Data Quality in Rare Diseases Registries.
Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, Rubinstein YR, Weinbach J, Taruscio D. Kodra Y, et al. Among authors: posada de la paz m. Adv Exp Med Biol. 2017;1031:149-164. doi: 10.1007/978-3-319-67144-4_8. Adv Exp Med Biol. 2017. PMID: 29214570 Review.
Congenital Anomalies: Cluster Detection and Investigation.
Bermejo-Sánchez E, Posada de la Paz M. Bermejo-Sánchez E, et al. Among authors: posada de la paz m. Adv Exp Med Biol. 2017;1031:535-557. doi: 10.1007/978-3-319-67144-4_29. Adv Exp Med Biol. 2017. PMID: 29214591 Review.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Among authors: posada de la paz m. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 Free PMC article.
The ASDEU autism prevalence study in northern Spain.
Fuentes J, Basurko A, Isasa I, Galende I, Muguerza MD, García-Primo P, García J, Fernández-Álvarez CJ, Canal-Bedia R, Posada de la Paz M. Fuentes J, et al. Among authors: posada de la paz m. Eur Child Adolesc Psychiatry. 2021 Apr;30(4):579-589. doi: 10.1007/s00787-020-01539-y. Epub 2020 May 9. Eur Child Adolesc Psychiatry. 2021. PMID: 32388625
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1462-1465. doi: 10.1038/s41431-021-00935-5. Eur J Hum Genet. 2021. PMID: 34429526 Free PMC article. No abstract available.
Screening for autism spectrum disorders: state of the art in Europe.
García-Primo P, Hellendoorn A, Charman T, Roeyers H, Dereu M, Roge B, Baduel S, Muratori F, Narzisi A, Van Daalen E, Moilanen I, de la Paz MP, Canal-Bedia R. García-Primo P, et al. Among authors: de la paz mp. Eur Child Adolesc Psychiatry. 2014 Nov;23(11):1005-21. doi: 10.1007/s00787-014-0555-6. Epub 2014 Jun 10. Eur Child Adolesc Psychiatry. 2014. PMID: 24913785 Free PMC article. Review.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
87 results