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 |
---|---|
2006 | 1 |
2008 | 1 |
2009 | 1 |
2012 | 1 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
Search Results
5 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.
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT.
Mills PB, et al.
Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19.
Nat Med. 2006.
PMID: 16491085
Item in Clipboard
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr.
Bennett CL, et al.
Epilepsia. 2009 May;50(5):1167-75. doi: 10.1111/j.1528-1167.2008.01816.x. Epub 2008 Oct 14.
Epilepsia. 2009.
PMID: 19128417
Free article.
Item in Clipboard
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.
Nam SH, Kwon MJ, Lee J, Lee CG, Yu HJ, Ki CS, Lee M.
Nam SH, et al.
Ann Clin Lab Sci. 2012 Winter;42(1):65-72.
Ann Clin Lab Sci. 2012.
PMID: 22371912
Item in Clipboard
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR Jr, Gospe SM Jr.
Mefford HC, et al.
Neurology. 2015 Sep 1;85(9):756-62. doi: 10.1212/WNL.0000000000001883. Epub 2015 Jul 29.
Neurology. 2015.
PMID: 26224730
Free PMC article.
Item in Clipboard
Cite
Cite