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Results by year

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

Year Number of Results
1957 1
1958 1
1962 1
1964 2
1966 1
1968 2
1971 2
1973 2
1976 1
1977 1
1979 1
1981 1
1985 1
1986 4
1987 5
1988 2
1989 5
1990 4
1991 7
1992 5
1993 3
1994 6
1995 5
1996 7
1997 4
1998 5
1999 3
2000 5
2001 1
2002 4
2003 1
2004 3
2005 5
2006 2
2007 5
2008 2
2009 1
2010 2
2011 2
2012 1
2013 1
2014 1
2016 1
2019 1
2024 0

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Publication date

PubMed (OMIM) for id: 5354

117 results

Results by year

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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Progesterone antagonist therapy in a Pelizaeus-Merzbacher mouse model.
Prukop T, Epplen DB, Nientiedt T, Wichert SP, Fledrich R, Stassart RM, Rossner MJ, Edgar JM, Werner HB, Nave KA, Sereda MW. Prukop T, et al. Am J Hum Genet. 2014 Apr 3;94(4):533-46. doi: 10.1016/j.ajhg.2014.03.001. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680886 Free PMC article.
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Carvalho CM, et al. Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944. Nat Genet. 2011. PMID: 21964572 Free PMC article.
The burden of inherited leukodystrophies in children.
Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. Bonkowsky JL, et al. Neurology. 2010 Aug 24;75(8):718-25. doi: 10.1212/WNL.0b013e3181eee46b. Epub 2010 Jul 21. Neurology. 2010. PMID: 20660364 Free PMC article.
Arena syndrome is caused by a missense mutation in PLP1.
Stevenson RE, Tarpey P, May MM, Stratton MR, Schwartz CE. Stevenson RE, et al. Am J Med Genet A. 2009 May;149A(5):1081. doi: 10.1002/ajmg.a.32795. Am J Med Genet A. 2009. PMID: 19396823 No abstract available.
117 results