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

Year Number of Results
1978 1
2001 1
2002 1
2003 1
2005 1
2007 1
2008 2
2010 2
2011 1
2014 3
2015 3
2018 1
2019 1
2020 1
2021 6
2023 3
2024 0

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27 results

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Page 1
Showing results for paz mp
Search for Baz MP instead (1 results)
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
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.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
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.
Rare diseases epidemiology research.
de la Paz MP, Villaverde-Hueso A, Alonso V, János S, Zurriaga O, Pollán M, Abaitua-Borda I. de la Paz MP, et al. Adv Exp Med Biol. 2010;686:17-39. doi: 10.1007/978-90-481-9485-8_2. Adv Exp Med Biol. 2010. PMID: 20824437
The Spanish toxic oil syndrome 20 years after its onset: a multidisciplinary review of scientific knowledge.
Gelpí E, de la Paz MP, Terracini B, Abaitua I, de la Cámara AG, Kilbourne EM, Lahoz C, Nemery B, Philen RM, Soldevilla L, Tarkowski S; WHO/CISAT Scientific Committee for the Toxic Oil Syndrome. Centro de Investigación para el Síndrome del Aceite Tóxico. Gelpí E, et al. Among authors: de la paz mp. Environ Health Perspect. 2002 May;110(5):457-64. doi: 10.1289/ehp.110-1240833. Environ Health Perspect. 2002. PMID: 12003748 Free PMC article. Review.
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.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
27 results