Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1998 1
2000 2
2001 2
2002 2
2003 1
2004 1
2005 1
2006 4
2007 7
2008 5
2009 9
2010 12
2011 13
2012 9
2013 11
2014 8
2015 15
2016 15
2017 17
2018 10
2019 15
2020 15
2021 15
2022 9
2023 4
Text availability
Article attribute
Article type
Publication date

Search Results

181 results
Results by year
Filters applied: . Clear all
Page 1
Omics Biomarkers in Ophthalmology.
Lauwen S, de Jong EK, Lefeber DJ, den Hollander Al. Lauwen S, et al. Among authors: lefeber dj. Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO88-BIO98. doi: 10.1167/iovs.17-21809. Invest Ophthalmol Vis Sci. 2017. PMID: 28525563 Review.
Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: lefeber dj. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: lefeber dj. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Congenital Disorders of Glycosylation.
Lefeber DJ, Freeze HH, Steet R, Kinoshita T. Lefeber DJ, et al. 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.
Clinical glycomics in the diagnostic laboratory.
Post MA, Lefeber DJ. Post MA, et al. Among authors: lefeber dj. Ann Transl Med. 2019 Sep;7(Suppl 6):S220. doi: 10.21037/atm.2019.08.74. Ann Transl Med. 2019. PMID: 31656799 Free PMC article. No abstract available.
Fluorinated rhamnosides inhibit cellular fucosylation.
Pijnenborg JFA, Rossing E, Merx J, Noga MJ, Titulaer WHC, Eerden N, Veizaj R, White PB, Lefeber DJ, Boltje TJ. Pijnenborg JFA, et al. Among authors: lefeber dj. Nat Commun. 2021 Dec 2;12(1):7024. doi: 10.1038/s41467-021-27355-9. Nat Commun. 2021. PMID: 34857733 Free PMC article.
Genetic defects in dolichol metabolism.
Buczkowska A, Swiezewska E, Lefeber DJ. Buczkowska A, et al. Among authors: lefeber dj. J Inherit Metab Dis. 2015 Jan;38(1):157-69. doi: 10.1007/s10545-014-9760-1. Epub 2014 Oct 1. J Inherit Metab Dis. 2015. PMID: 25270028 Free PMC article. Review.
ATP6AP1-CDG: Follow-up and female phenotype.
Lipiński P, Rokicki D, Bogdańska A, Lesiak J, Lefeber DJ, Tylki-Szymańska A. Lipiński P, et al. Among authors: lefeber dj. JIMD Rep. 2020 Apr 9;53(1):80-82. doi: 10.1002/jmd2.12104. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395412 Free PMC article.
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.
Pravata VM, Omelková M, Stavridis MP, Desbiens CM, Stephen HM, Lefeber DJ, Gecz J, Gundogdu M, Õunap K, Joss S, Schwartz CE, Wells L, van Aalten DMF. Pravata VM, et al. Among authors: lefeber dj. Eur J Hum Genet. 2020 Jun;28(6):706-714. doi: 10.1038/s41431-020-0589-9. Epub 2020 Feb 20. Eur J Hum Genet. 2020. PMID: 32080367 Free PMC article. Review.
181 results