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 |
---|---|
2011 | 1 |
2012 | 1 |
2018 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb.
Neurol Genet. 2018.
PMID: 29417091
Free PMC article.
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR.
Tucker EJ, et al.
Hum Mutat. 2012 Feb;33(2):411-8. doi: 10.1002/humu.21654. Epub 2011 Dec 22.
Hum Mutat. 2012.
PMID: 22072591
Item in Clipboard
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS.
Kimonis V, et al.
J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9.
J Med Genet. 2021.
PMID: 32518176
Free article.
Review.
Item in Clipboard
Cite
Cite