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

Year Number of Results
2001 1
2004 1
2005 1
2006 1
2008 2
2011 2
2012 3
2014 2
2015 1
2016 1
2017 1
2018 4
2019 4
2020 9
2021 9
2022 9
2023 5
2024 3

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50 results

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Page 1
Long-term culture of genome-stable bipotent stem cells from adult human liver.
Huch M, Gehart H, van Boxtel R, Hamer K, Blokzijl F, Verstegen MM, Ellis E, van Wenum M, Fuchs SA, de Ligt J, van de Wetering M, Sasaki N, Boers SJ, Kemperman H, de Jonge J, Ijzermans JN, Nieuwenhuis EE, Hoekstra R, Strom S, Vries RR, van der Laan LJ, Cuppen E, Clevers H. Huch M, et al. Among authors: fuchs sa. Cell. 2015 Jan 15;160(1-2):299-312. doi: 10.1016/j.cell.2014.11.050. Epub 2014 Dec 18. Cell. 2015. PMID: 25533785 Free PMC article.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Among authors: fuchs sa. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC article.
Ethical challenges for pediatric liver organoid transplantation.
Schneemann SA, Boers SN, van Delden JJM, Nieuwenhuis EES, Fuchs SA, Bredenoord AL. Schneemann SA, et al. Among authors: fuchs sa. Sci Transl Med. 2020 Jul 15;12(552):eaau8471. doi: 10.1126/scitranslmed.aau8471. Sci Transl Med. 2020. PMID: 32669425 Review.
Response to Shen et al.
Kok G, van Karnebeek CDM, Fuchs SA. Kok G, et al. Among authors: fuchs sa. Genet Med. 2022 Feb;24(2):506-507. doi: 10.1016/j.gim.2021.09.022. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906483 Free article. No abstract available.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M. Crefcoeur L, et al. Among authors: fuchs sa. J Med Genet. 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. J Med Genet. 2023. PMID: 37487700 Free PMC article.
Glucose transporter type 1 deficiency syndrome and the ketogenic diet.
Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA. Schwantje M, et al. Among authors: fuchs sa. J Inherit Metab Dis. 2020 Mar;43(2):216-222. doi: 10.1002/jimd.12175. Epub 2019 Nov 13. J Inherit Metab Dis. 2020. PMID: 31605543 Free PMC article. Review.
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Kuper WFE, et al. Among authors: fuchs sa. J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1. J Inherit Metab Dis. 2018. PMID: 29392585 Free PMC article.
Response to Shen and Zou.
Kok G, van Karnebeek CDM, Fuchs SA. Kok G, et al. Among authors: fuchs sa. Genet Med. 2021 Mar;23(3):589-590. doi: 10.1038/s41436-020-01014-8. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087890 Free article. No abstract available.
Liver transplantation in glycogen storage disease type I.
Boers SJ, Visser G, Smit PG, Fuchs SA. Boers SJ, et al. Among authors: fuchs sa. Orphanet J Rare Dis. 2014 Apr 9;9:47. doi: 10.1186/1750-1172-9-47. Orphanet J Rare Dis. 2014. PMID: 24716823 Free PMC article. Review.
50 results