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Results by year

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

Year Number of Results
1951 1
1958 1
1964 1
1966 1
1971 1
1976 1
1980 1
1982 1
1984 1
1986 1
1987 3
1988 1
1989 6
1990 3
1991 5
1992 2
1993 5
1994 1
1995 2
1997 4
1998 3
1999 2
2001 2
2002 2
2004 2
2005 1
2006 1
2007 2
2008 3
2009 2
2010 7
2011 3
2012 3
2013 8
2014 6
2015 9
2016 9
2017 6
2018 8
2019 10
2020 16
2021 14
2022 8
2023 6

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159 results

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Page 1
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: murphy jl. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.
Consensus statement on preventive and symptomatic care of leukodystrophy patients.
Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium. Van Haren K, et al. Among authors: murphy jl. Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27. Mol Genet Metab. 2015. PMID: 25577286
Energy balance and growth in cystic fibrosis.
Wootton SA, Murphy JL, Bond SA, Ellis JE, Jackson AA. Wootton SA, et al. Among authors: murphy jl. J R Soc Med. 1991;84 Suppl 18(Suppl 18):22-7. J R Soc Med. 1991. PMID: 2033573 Free PMC article. Review. No abstract available.
159 results