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 |
---|---|
1999 | 1 |
2003 | 1 |
2006 | 1 |
2008 | 1 |
2016 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Page 1
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.
JAMA Oncol. 2016.
PMID: 26822237
Free PMC article.
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.
Bravo O, Ballana E, Estivill X.
Bravo O, et al.
Biochem Biophys Res Commun. 2006 Jun 2;344(2):511-6. doi: 10.1016/j.bbrc.2006.03.143. Epub 2006 Mar 30.
Biochem Biophys Res Commun. 2006.
PMID: 16631122
Clinical Trial.
Item in Clipboard
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.
Konings A, Van Camp G, Goethals A, Van Eyken E, Vandevelde A, Ben Azza J, Peeters N, Wuyts W, Smeets H, Van Laer L.
Konings A, et al.
Mitochondrion. 2008 Dec;8(5-6):377-82. doi: 10.1016/j.mito.2008.08.001. Epub 2008 Aug 26.
Mitochondrion. 2008.
PMID: 18790089
Item in Clipboard
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terán J, Morales-Angulo C, Ramírez-Camacho R, Cruz Tapia M, Solanellas J, Martínez-Conde A, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I.
del Castillo FJ, et al.
J Med Genet. 2003 Aug;40(8):632-6. doi: 10.1136/jmg.40.8.632.
J Med Genet. 2003.
PMID: 12920080
Free PMC article.
No abstract available.
Item in Clipboard
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.
Santorelli FM, Tanji K, Manta P, Casali C, Krishna S, Hays AP, Mancini DM, DiMauro S, Hirano M.
Santorelli FM, et al.
Am J Hum Genet. 1999 Jan;64(1):295-300. doi: 10.1086/302188.
Am J Hum Genet. 1999.
PMID: 9915970
Free PMC article.
No abstract available.
Item in Clipboard
Cite
Cite