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Results by year

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

Year Number of Results
1949 1
1955 1
1960 1
1962 1
1964 2
1965 1
1966 1
1969 3
1970 3
1971 2
1973 2
1974 5
1975 3
1976 2
1977 2
1978 3
1979 2
1980 2
1981 2
1982 4
1983 3
1984 7
1985 5
1986 5
1987 3
1988 5
1989 11
1990 8
1991 9
1992 9
1993 7
1994 11
1995 13
1996 23
1997 3
1998 9
1999 9
2000 9
2001 7
2002 5
2003 8
2004 12
2005 24
2006 20
2007 16
2008 20
2009 22
2010 23
2011 19
2012 27
2013 38
2014 41
2015 35
2016 48
2017 39
2018 38
2019 57
2020 59
2021 70
2022 67
2023 60
2024 21

Text availability

Article attribute

Article type

Publication date

Search Results

850 results

Results by year

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Page 1
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: weaver kn. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: weaver kn. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Enterococcal Genetics.
Weaver KE. Weaver KE. Microbiol Spectr. 2019 Mar;7(2). doi: 10.1128/microbiolspec.GPP3-0055-2018. Microbiol Spectr. 2019. PMID: 30848235 Free article. Review.
HRAS-Related Costello Syndrome.
Gripp KW, Weaver KN. Gripp KW, et al. Among authors: weaver kn. 2006 Aug 29 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Aug 29 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301680 Free Books & Documents. Review.
Petroclival meningiomas.
Hunter JB, Weaver KD, Thompson RC, Wanna GB. Hunter JB, et al. Among authors: weaver kd. Otolaryngol Clin North Am. 2015 Jun;48(3):477-90. doi: 10.1016/j.otc.2015.02.007. Epub 2015 Apr 9. Otolaryngol Clin North Am. 2015. PMID: 25863570 Review.
Irritable Bowel Syndrome.
Weaver KR, Melkus GD, Henderson WA. Weaver KR, et al. Am J Nurs. 2017 Jun;117(6):48-55. doi: 10.1097/01.NAJ.0000520253.57459.01. Am J Nurs. 2017. PMID: 28541989 Free PMC article.
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: weaver kn. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Sphingosine Phosphate Lyase Insufficiency Syndrome.
Weaver KN, Sullivan B, Hildebrandt F, Strober J, Cooper M, Prasad R, Saba J. Weaver KN, et al. 2020 Oct 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Oct 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33074640 Free Books & Documents. Review.
850 results