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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2005 | 1 |
2011 | 1 |
2014 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 57505
5 results
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Page 1
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.
JAMA. 2014.
PMID: 25058219
Free PMC article.
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.
Dallabona C, et al.
Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7.
Neurology. 2014.
PMID: 24808023
Free PMC article.
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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A.
Götz A, et al.
Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5.
Am J Hum Genet. 2011.
PMID: 21549344
Free PMC article.
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Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.
Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M.
Bonnefond L, et al.
Biochemistry. 2005 Mar 29;44(12):4805-16. doi: 10.1021/bi047527z.
Biochemistry. 2005.
PMID: 15779907
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Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O.
Nagase T, et al.
DNA Res. 1999 Oct 29;6(5):337-45. doi: 10.1093/dnares/6.5.337.
DNA Res. 1999.
PMID: 10574462
Free article.
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