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

Year Number of Results
1951 2
1955 1
1957 1
1958 2
1960 4
1961 6
1962 3
1963 2
1964 2
1965 3
1966 2
1968 1
1971 1
1983 1
1986 2
1991 1
1993 1
1996 1
1997 2
1998 3
2000 2
2002 1
2004 4
2006 7
2007 6
2008 5
2009 2
2010 6
2011 4
2012 3
2013 1
2014 2
2015 2
2016 5
2017 4
2018 5
2019 11
2020 13
2021 18
2022 10
2023 15
2024 7

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159 results

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Page 1
Introduction.
Andina D, Fukushima K, Peláez JR, Pham DT. Andina D, et al. Among authors: pelaez jr. Int J Neural Syst. 2018 Jun;28(5):1803001. doi: 10.1142/S0129065718030016. Int J Neural Syst. 2018. PMID: 29673276 No abstract available.
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.
A standardized nomenclature and atlas of the female terminalia of Drosophila melanogaster.
McQueen EW, Afkhami M, Atallah J, Belote JM, Gompel N, Heifetz Y, Kamimura Y, Kornhauser SC, Masly JP, O'Grady P, Peláez J, Rebeiz M, Rice G, Sánchez-Herrero E, Santos Nunes MD, Santos Rampasso A, Schnakenberg SL, Siegal ML, Takahashi A, Tanaka KM, Turetzek N, Zelinger E, Courtier-Orgogozo V, Toda MJ, Wolfner MF, Yassin A. McQueen EW, et al. Among authors: pelaez j. Fly (Austin). 2022 Dec;16(1):128-151. doi: 10.1080/19336934.2022.2058309. Fly (Austin). 2022. PMID: 35575031 Free PMC article. Review.
Taste evolution in an herbivorous drosophilid.
Peláez JN, Bernstein S, Okoro J, Rodas E, Liang I, Leipertz A, Marion-Poll F, Whiteman NK. Peláez JN, et al. bioRxiv [Preprint]. 2024 Feb 29:2024.02.27.582299. doi: 10.1101/2024.02.27.582299. bioRxiv. 2024. PMID: 38464294 Free PMC article. Preprint.
[Nodular thyroid pathology diagnostic approach].
de Luis DA, Peláez JL. de Luis DA, et al. Among authors: pelaez jl. Rev Clin Esp. 2004 May;204(5):266-8. doi: 10.1157/13061414. Rev Clin Esp. 2004. PMID: 15142496 Review. Spanish. 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.
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.
159 results