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 |
---|---|
2007 | 2 |
2013 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
COG8 deficiency causes new congenital disorder of glycosylation type IIh.
Hum Mol Genet. 2007 Apr 1;16(7):731-41. doi: 10.1093/hmg/ddm028. Epub 2007 Mar 1.
Hum Mol Genet. 2007.
PMID: 17331980
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Kranz C, Basinger AA, Güçsavaş-Calikoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH.
Kranz C, et al.
Am J Med Genet A. 2007 Jun 15;143A(12):1371-8. doi: 10.1002/ajmg.a.31791.
Am J Med Genet A. 2007.
PMID: 17506107
Item in Clipboard
Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.
Sun L, Zhao Y, Zhou K, Freeze HH, Zhang YW, Xu H.
Sun L, et al.
Mol Brain. 2013 Dec 4;6:52. doi: 10.1186/1756-6606-6-52.
Mol Brain. 2013.
PMID: 24305089
Free PMC article.
Item in Clipboard
Cite
Cite