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

Year Number of Results
1995 1
1999 1
2000 1
2004 1
2005 3
2006 3
2007 1
2009 1
2010 1
2011 5
2012 6
2013 7
2014 3
2015 6
2016 8
2017 1
2018 3
2019 2
2020 7
2021 6
2022 6
2023 5
2024 1

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66 results

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Page 1
Congenital Disorders of Glycosylation.
Lefeber DJ, Freeze HH, Steet R, Kinoshita T. Lefeber DJ, et al. Among authors: steet r. In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Mohnen D, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 45. In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Mohnen D, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 45. PMID: 35536942 Free Books & Documents. Review.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: steet r. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
Genetic Disorders of Glycan Degradation.
Freeze HH, Steet R, Suzuki T, Kinoshita T, Schnaar RL. Freeze HH, et al. Among authors: steet r. In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Mohnen D, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 44. In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Mohnen D, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 4th edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2022. Chapter 44. PMID: 35536982 Free Books & Documents. Review.
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.
Klaver EJ, Dukes-Rimsky L, Kumar B, Xia ZJ, Dang T, Lehrman MA, Angel P, Drake RR, Freeze HH, Steet R, Flanagan-Steet H. Klaver EJ, et al. Among authors: steet r. JCI Insight. 2021 Dec 22;6(24):e153474. doi: 10.1172/jci.insight.153474. JCI Insight. 2021. PMID: 34784297 Free PMC article.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, Gößwein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. Burns W, et al. Among authors: steet r. Am J Med Genet A. 2021 Oct;185(10):2863-2872. doi: 10.1002/ajmg.a.62359. Epub 2021 May 29. Am J Med Genet A. 2021. PMID: 34050707
66 results