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Results by year

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

Year Number of Results
1991 1
1993 3
1994 2
1995 2
1997 2
1998 4
2000 3
2001 2
2002 1
2003 3
2004 3
2005 2
2006 6
2007 1
2008 3
2009 3
2010 2
2011 4
2012 2
2013 2
2014 3
2015 7
2016 4
2017 4
2018 1
2019 2
2020 1
2021 1
2022 1
2023 1

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67 results

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Page 1
CLN8 disease caused by large genomic deletions.
Beesley C, Guerreiro RJ, Bras JT, Williams RE, Taratuto AL, Eltze C, Mole SE. Beesley C, et al. Mol Genet Genomic Med. 2016 Nov 23;5(1):85-91. doi: 10.1002/mgg3.263. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116333 Free PMC article.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. Baruteau J, et al. Among authors: beesley ce. J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1. J Inherit Metab Dis. 2017. PMID: 28251416 Free PMC article.
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Among authors: beesley c. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB. Reid ES, et al. Among authors: beesley c. Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221. Brain. 2016. PMID: 27604308 Free PMC article.
67 results