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

Year Number of Results
1946 1
1954 1
1960 1
1965 1
1969 1
1970 2
1972 1
1973 1
1981 1
1982 1
1983 1
1984 5
1985 4
1986 4
1987 3
1988 1
1989 8
1990 1
1991 1
1994 1
1996 1
1998 1
2000 3
2001 2
2002 2
2003 2
2004 1
2005 1
2006 9
2007 5
2008 5
2009 5
2010 4
2011 10
2012 8
2013 7
2014 7
2015 2
2016 4
2017 7
2018 8
2019 2
2020 8
2021 20
2022 7
2023 13
2024 12
2025 6

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179 results

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Page 1
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Among authors: spalding d. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Peritonitis.
Spalding DR, Williamson RC. Spalding DR, et al. Br J Hosp Med (Lond). 2008 Jan;69(1):M12-5. doi: 10.12968/hmed.2008.69.Sup1.28050. Br J Hosp Med (Lond). 2008. PMID: 18293728 Review. No abstract available.
The journey of radiofrequency-assisted liver resection.
Reccia I, Sodergren MH, Jayant K, Kurz E, Carneiro A, Spalding D, Pai M, Jiao L, Habib N. Reccia I, et al. Among authors: spalding d. Surg Oncol. 2018 Jun;27(2):A16-A18. doi: 10.1016/j.suronc.2018.01.004. Epub 2018 Jan 31. Surg Oncol. 2018. PMID: 29449067 Free article. 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.
179 results