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

Year Number of Results
1998 1
2002 4
2003 2
2004 1
2005 1
2007 1
2008 3
2009 2
2010 4
2011 1
2012 2
2013 1
2014 2
2015 3
2016 1
2017 1
2018 3
2019 3
2020 1
2021 9
2022 3
2023 5
2024 0

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Page 1
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.
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.
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.
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.
Vaccine-Associated Rubella Caused by the RA 27/3 Strain.
Paz M, Padilla M, Perez E, Sauceda J, Camacho A. Paz M, et al. Vaccines (Basel). 2022 Dec 28;11(1):65. doi: 10.3390/vaccines11010065. Vaccines (Basel). 2022. PMID: 36679910 Free PMC article.
50 results