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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2007 | 1 |
2008 | 1 |
2010 | 1 |
2012 | 1 |
2013 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
Search Results
7 results
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Page 1
Myotilinopathy: refining the clinical and myopathological phenotype.
Brain. 2005 Oct;128(Pt 10):2315-26. doi: 10.1093/brain/awh576. Epub 2005 Jun 9.
Brain. 2005.
PMID: 15947064
Free article.
A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.
1000 Genomes Project Consortium, et al.
Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.
Nature. 2010.
PMID: 20981092
Free PMC article.
Item in Clipboard
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M, Faquih T, El-Kalioby M, Alkuraya FS.
Abouelhoda M, et al.
Genome Biol. 2016 Nov 24;17(1):235. doi: 10.1186/s13059-016-1102-1.
Genome Biol. 2016.
PMID: 27884173
Free PMC article.
Item in Clipboard
An informatics approach to analyzing the incidentalome.
Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP.
Berg JS, et al.
Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20.
Genet Med. 2013.
PMID: 22995991
Free PMC article.
Item in Clipboard
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Weihl CC, Baloh RH, Lee Y, Chou TF, Pittman SK, Lopate G, Allred P, Jockel-Balsarotti J, Pestronk A, Harms MB.
Weihl CC, et al.
Neuromuscul Disord. 2015 Apr;25(4):289-96. doi: 10.1016/j.nmd.2014.12.009. Epub 2015 Jan 6.
Neuromuscul Disord. 2015.
PMID: 25617006
Free PMC article.
Item in Clipboard
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H.
Bär H, et al.
Hum Mutat. 2007 Apr;28(4):374-86. doi: 10.1002/humu.20459.
Hum Mutat. 2007.
PMID: 17221859
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Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
Claeys KG, Fardeau M, Schröder R, Suominen T, Tolksdorf K, Behin A, Dubourg O, Eymard B, Maisonobe T, Stojkovic T, Faulkner G, Richard P, Vicart P, Udd B, Voit T, Stoltenburg G.
Claeys KG, et al.
Neuromuscul Disord. 2008 Aug;18(8):656-66. doi: 10.1016/j.nmd.2008.06.367. Epub 2008 Jul 23.
Neuromuscul Disord. 2008.
PMID: 18653338
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