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

Year Number of Results
1970 2
1974 1
1988 3
1989 2
1990 1
1991 4
1993 3
1994 1
1995 1
1996 1
1999 1
2000 2
2001 1
2002 1
2003 2
2004 6
2005 1
2006 3
2007 2
2008 1
2010 4
2011 5
2012 5
2013 3
2014 5
2015 3
2016 6
2017 10
2018 8
2019 16
2020 4
2021 2
2023 1
2024 0

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101 results

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Page 1
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.
Kölker S, Koeller DM, Sauer S, Hörster F, Schwab MA, Hoffmann GF, Ullrich K, Okun JG. Kölker S, et al. Among authors: koeller dm. J Inherit Metab Dis. 2004;27(6):805-12. doi: 10.1023/B:BOLI.0000045762.37248.28. J Inherit Metab Dis. 2004. PMID: 15505385 Review.
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. Among authors: koeller dm. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: koeller dm. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
Reply: To PMID 23992672.
Gessner BD, Gillingham MB, Wood T, Koeller DM. Gessner BD, et al. Among authors: koeller dm. J Pediatr. 2014 Aug;165(2):420-2. doi: 10.1016/j.jpeds.2014.04.043. Epub 2014 Jun 11. J Pediatr. 2014. PMID: 24928700 No abstract available.
Reply: To PMID 23992672.
Gessner BD, Gillingham MB, Wood T, Koeller DM. Gessner BD, et al. Among authors: koeller dm. J Pediatr. 2014 Aug;165(2):419-20. doi: 10.1016/j.jpeds.2014.04.038. Epub 2014 May 23. J Pediatr. 2014. PMID: 24862382 No abstract available.
101 results