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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 12
2011 9
2012 17
2013 21
2014 20
2015 22
2016 18
2017 21
2018 8
2019 8
2020 9
2021 19
2022 5
2023 10
2024 12
2025 7

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328 results

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Page 1
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.
Thermal ablation versus surgical resection of small-size colorectal liver metastases (COLLISION): an international, randomised, controlled, phase 3 non-inferiority trial.
van der Lei S, Puijk RS, Dijkstra M, Schulz HH, Vos DJW, De Vries JJJ, Scheffer HJ, Lissenberg-Witte BI, Aldrighetti L, Arntz M, Barentsz MW, Besselink MG, Bracke B, Bruijnen RCG, Buffart TE, Burgmans MC, Chapelle T, Coolsen MME, de Boer SW, de Cobelli F, de Jong K, de Wilt JHW, Diederik AL, Dooper AMC, Draaisma WA, Eker HH, Erdmann JI, Futterer JJ, Geboers B, Groot GMC, Hagendoorn J, Hartgrink HH, Horsthuis K, Hurks R, Jenniskens SFM, Kater M, Kazemier G, Kist JW, Klaase JM, Knapen RRMM, Kruimer JWH, Lamers ABGN, Leclercq WKG, Liefers GJ, Manusama ER, Meier MAJ, Melenhorst MCAM, Mieog JSD, Molenaar QI, Nielsen K, Nijkamp MW, Nieuwenhuijs VB, Nota IMGC, Op de Beeck B, Overduin CG, Patijn GA, Potters FH, Ratti F, Rietema FJ, Ruiter SJS, Schouten EAC, Schreurs WH, Serafino G, Sietses C, Slooter GD, Smits MLJ, Soykan EA, Spaargaren GJ, Stommel MWJ, Timmer FEF, van Baardewijk LJ, van Dam RM, van Delden OM, van den Bemd BAT, van den Bergh JE, van den Boezem PB, van der Leij C, van der Meer RW, van der Meijs BBM, van der Ploeg APT, van der Reijden JJ, van Duijvendijk P, van Erkel AR, van Geel AM, Van Heek NT, van Manen CJ, van Rijswijk CSP, van Waesberghe JHTM, Versteeg KS, Vink … See abstract for full author list ➔ van der Lei S, et al. Among authors: scheffer hj. Lancet Oncol. 2025 Feb;26(2):187-199. doi: 10.1016/S1470-2045(24)00660-0. Epub 2025 Jan 20. Lancet Oncol. 2025. PMID: 39848272 Clinical Trial.
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: scheffer h. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 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.
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. 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.
328 results