Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2016 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17.
Am J Hum Genet. 2021.
PMID: 34143952
Free PMC article.
Defining a new immune deficiency syndrome: MAN2B2-CDG.
Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E.
Verheijen J, et al.
J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24.
J Allergy Clin Immunol. 2020.
PMID: 31775018
Free PMC article.
Item in Clipboard
Mitochondrial function requires NGLY1.
Kong J, Peng M, Ostrovsky J, Kwon YJ, Oretsky O, McCormick EM, He M, Argon Y, Falk MJ.
Kong J, et al.
Mitochondrion. 2018 Jan;38:6-16. doi: 10.1016/j.mito.2017.07.008. Epub 2017 Jul 25.
Mitochondrion. 2018.
PMID: 28750948
Free PMC article.
Item in Clipboard
International Paediatric Mitochondrial Disease Scale.
Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM.
Koene S, et al.
J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9.
J Inherit Metab Dis. 2016.
PMID: 27277220
Free PMC article.
Item in Clipboard
Cite
Cite