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Results by year

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

Year Number of Results
1954 1
1955 1
1966 1
1968 1
1981 1
1986 3
1987 2
1988 2
1989 3
1990 3
1991 3
1992 5
1993 4
1994 7
1995 10
1996 10
1997 7
1998 3
1999 4
2000 8
2001 8
2002 4
2003 3
2004 7
2005 5
2006 7
2007 7
2008 13
2009 11
2010 11
2011 7
2012 14
2013 16
2014 14
2015 20
2016 17
2017 18
2018 8
2019 8
2020 9
2021 13
2022 5
2023 7
2024 5

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Search Results

288 results

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Page 1
Guidelines for diagnostic next-generation sequencing.
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P; EuroGentest; European Society of Human Genetics. Matthijs G, et al. Among authors: scheffer h. Eur J Hum Genet. 2016 Jan;24(1):2-5. doi: 10.1038/ejhg.2015.226. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508566 Free PMC article.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: scheffer h. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. de Ligt J, et al. Among authors: scheffer h. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3. N Engl J Med. 2012. PMID: 23033978 Free article.
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Dequeker E, et al. Among authors: scheffer h. Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6. Eur J Hum Genet. 2009. PMID: 18685558 Free PMC article.
Colorectal liver metastases: surgery versus thermal ablation (COLLISION) - a phase III single-blind prospective randomized controlled trial.
Puijk RS, Ruarus AH, Vroomen LGPH, van Tilborg AAJM, Scheffer HJ, Nielsen K, de Jong MC, de Vries JJJ, Zonderhuis BM, Eker HH, Kazemier G, Verheul H, van der Meijs BB, van Dam L, Sorgedrager N, Coupé VMH, van den Tol PMP, Meijerink MR; COLLISION Trial Group. Puijk RS, et al. Among authors: scheffer hj. BMC Cancer. 2018 Aug 15;18(1):821. doi: 10.1186/s12885-018-4716-8. BMC Cancer. 2018. PMID: 30111304 Free PMC article. Clinical Trial.
Irreversible Electroporation in Hepatopancreaticobiliary Tumours.
Ruarus AH, Vroomen LGPH, Puijk RS, Scheffer HJ, Zonderhuis BM, Kazemier G, van den Tol MP, Berger FH, Meijerink MR. Ruarus AH, et al. Among authors: scheffer hj. Can Assoc Radiol J. 2018 Feb;69(1):38-50. doi: 10.1016/j.carj.2017.10.005. Can Assoc Radiol J. 2018. PMID: 29458954 Free article. Review.
Irreversible Electroporation for Colorectal Liver Metastases.
Scheffer HJ, Melenhorst MC, Echenique AM, Nielsen K, van Tilborg AA, van den Bos W, Vroomen LG, van den Tol PM, Meijerink MR. Scheffer HJ, et al. Tech Vasc Interv Radiol. 2015 Sep;18(3):159-69. doi: 10.1053/j.tvir.2015.06.007. Epub 2015 Jun 18. Tech Vasc Interv Radiol. 2015. PMID: 26365546 Review.
Pancreatic Cancer and Immunotherapy: A Clinical Overview.
Timmer FEF, Geboers B, Nieuwenhuizen S, Dijkstra M, Schouten EAC, Puijk RS, de Vries JJJ, van den Tol MP, Bruynzeel AME, Streppel MM, Wilmink JW, van der Vliet HJ, Meijerink MR, Scheffer HJ, de Gruijl TD. Timmer FEF, et al. Among authors: scheffer hj. Cancers (Basel). 2021 Aug 17;13(16):4138. doi: 10.3390/cancers13164138. Cancers (Basel). 2021. PMID: 34439292 Free PMC article. Review.
Irreversible Electroporation for Locally Advanced Pancreatic Cancer.
Timmer FEF, Geboers B, Ruarus AH, Schouten EAC, Nieuwenhuizen S, Puijk RS, de Vries JJJ, Meijerink MR, Scheffer HJ. Timmer FEF, et al. Among authors: scheffer hj. Tech Vasc Interv Radiol. 2020 Jun;23(2):100675. doi: 10.1016/j.tvir.2020.100675. Epub 2020 May 25. Tech Vasc Interv Radiol. 2020. PMID: 32591191 Free article. Review.
Critical points for an accurate human genome analysis.
White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT. White SJ, et al. Among authors: scheffer h. Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Hum Mutat. 2017. PMID: 28471515 Review.
288 results