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 |
---|---|
1993 | 1 |
2009 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S.
Tsujino S, et al.
Am J Hum Genet. 1993 Mar;52(3):472-7.
Am J Hum Genet. 1993.
PMID: 8447317
Free PMC article.
Item in Clipboard
Muscle phosphoglycerate mutase deficiency revisited.
Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S.
Naini A, et al.
Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584.
Arch Neurol. 2009.
PMID: 19273759
Item in Clipboard
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.
Koo B, Oskarsson B.
Koo B, et al.
Neuromuscul Disord. 2016 Oct;26(10):688-690. doi: 10.1016/j.nmd.2016.08.002. Epub 2016 Aug 11.
Neuromuscul Disord. 2016.
PMID: 27612597
Item in Clipboard
Cite
Cite