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

Year Number of Results
2002 4
2003 3
2004 5
2005 6
2006 4
2007 8
2008 3
2009 6
2010 3
2011 5
2012 3
2013 3
2014 1
2015 3
2016 5
2017 5
2018 6
2019 2
2020 1
2021 4
2022 1
2023 2
2024 1

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Page 1
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Galván NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Ma M, et al. Among authors: bove ke. Genet Med. 2024 Mar 21:101125. doi: 10.1016/j.gim.2024.101125. Online ahead of print. Genet Med. 2024. PMID: 38522068
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: bove ke. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Inborn Errors of Bile Acid Metabolism.
Heubi JE, Setchell KDR, Bove KE. Heubi JE, et al. Among authors: bove ke. Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006. Epub 2018 Aug 22. Clin Liver Dis. 2018. PMID: 30266156 Review.
76 results