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

Year Number of Results
2000 1
2001 2
2002 1
2003 3
2004 2
2005 1
2006 3
2007 12
2008 4
2009 1
2010 6
2011 31
2012 37
2013 32
2014 47
2015 41
2016 38
2017 34
2018 23
2019 9
2021 1
2022 1
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269 results
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Page 1
Noonan syndrome.
Bhambhani V, Muenke M. Bhambhani V, et al. Am Fam Physician. 2014 Jan 1;89(1):37-43. Am Fam Physician. 2014. PMID: 24444506 Free PMC article.
Genomic medicine for undiagnosed diseases.
Wise AL, Manolio TA, Mensah GA, Peterson JF, Roden DM, Tamburro C, Williams MS, Green ED. Wise AL, et al. Lancet. 2019 Aug 10;394(10197):533-540. doi: 10.1016/S0140-6736(19)31274-7. Epub 2019 Aug 5. Lancet. 2019. PMID: 31395441 Free PMC article. Review.
Gaucher disease: Progress and ongoing challenges.
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Mistry PK, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):8-21. doi: 10.1016/j.ymgme.2016.11.006. Epub 2016 Nov 17. Mol Genet Metab. 2017. PMID: 27916601 Free PMC article. Review.
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Zhou Q, et al. N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552284 Free PMC article.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, Hanson EP, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I. Zhou Q, et al. Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642243 Free PMC article.
A proposed nosology of inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. Ferreira CR, et al. Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8. Genet Med. 2019. PMID: 29884839 Free PMC article.
269 results