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

Year Number of Results
1958 1
1985 1
1986 1
1990 2
1992 1
1993 1
1996 1
1998 1
2001 2
2003 2
2004 1
2005 1
2007 2
2008 2
2009 3
2010 3
2011 1
2012 3
2015 2
2016 4
2017 1
2018 3
2019 3
2020 2
2021 3
2022 4
2023 1
2024 0

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44 results

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Page 1
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Leslie ND, Saenz-Ayala S. Leslie ND, et al. 2009 May 28 [updated 2023 Jul 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 May 28 [updated 2023 Jul 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301763 Free Books & Documents. Review.
Endocrine disorders in children.
Chernausek SD, Leslie ND, Bloch CA, Sperling MA. Chernausek SD, et al. Among authors: leslie nd. Surg Clin North Am. 1985 Dec;65(6):1527-49. doi: 10.1016/s0039-6109(16)43785-0. Surg Clin North Am. 1985. PMID: 2866586 Review.
Insights into the pathogenesis of galactosemia.
Leslie ND. Leslie ND. Annu Rev Nutr. 2003;23:59-80. doi: 10.1146/annurev.nutr.23.011702.073135. Epub 2003 Apr 9. Annu Rev Nutr. 2003. PMID: 12704219 Review.
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: leslie nd. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. Neilson DE, et al. Among authors: leslie nd. Mov Disord. 2022 Feb;37(2):375-383. doi: 10.1002/mds.28821. Epub 2021 Oct 11. Mov Disord. 2022. PMID: 34636445 Free PMC article.
44 results