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Year Number of Results
1947 2
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2006 1
2008 1
2010 4
2011 4
2012 3
2013 1
2014 1
2017 3
2018 3
2019 1
2020 4
2021 2
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29 results

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Page 1
Eye involvement in inherited metabolic disorders.
Davison JE. Davison JE. Ther Adv Ophthalmol. 2020 Dec 29;12:2515841420979109. doi: 10.1177/2515841420979109. eCollection 2020 Jan-Dec. Ther Adv Ophthalmol. 2020. PMID: 33447730 Free PMC article. Review.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Isolated aortic root dilation in homocystinuria.
Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E. Lorenzini M, et al. Among authors: davison je. J Inherit Metab Dis. 2018 Jan;41(1):109-115. doi: 10.1007/s10545-017-0094-7. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980096 Free PMC article.
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
Weinstein DA, Jackson RJ, Brennan EA, Williams M, Davison JE, Boer F, Derks T, Ellerton C, Faragher B, Gribben J, Labrune P, McKittrick KM, Murphy E, Ross KM, Steuerwald U, Voillot C, Woodward A, Mundy HR. Weinstein DA, et al. Among authors: davison je. Orphanet J Rare Dis. 2024 Jul 9;19(1):258. doi: 10.1186/s13023-024-03274-y. Orphanet J Rare Dis. 2024. PMID: 38982397 Free PMC article. Clinical Trial.
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P, Footitt E, Davison JE, Lam A, Woodward CE, Batzios S, Bhate S, Chakrapani A, Cleary M, Gissen P, Grunewald S, Hurst JA, Scott R, Heales S, Jacques TS, Cullup T, Rahman S. Forny P, et al. Among authors: davison je. Neurol Genet. 2021 May 25;7(3):e597. doi: 10.1212/NXG.0000000000000597. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34056100 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: davison je. 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.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. Wortmann SB, et al. Among authors: davison je. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004446 Free PMC article.
29 results