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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2007 | 1 |
2013 | 2 |
2014 | 1 |
2016 | 1 |
2024 | 0 |
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5 results
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Page 1
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
J Hum Genet. 2007;52(6):543-548. doi: 10.1007/s10038-007-0149-y. Epub 2007 May 3.
J Hum Genet. 2007.
PMID: 17476457
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.
Bean LJ, Tinker SW, da Silva C, Hegde MR.
Bean LJ, et al.
Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.
Hum Mutat. 2013.
PMID: 23757202
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A systematic approach to assessing the clinical significance of genetic variants.
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.
Duzkale H, et al.
Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.
Clin Genet. 2013.
PMID: 24033266
Free PMC article.
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Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y, Freudenberg J, Vacic V, Abhyankar A, Emde AK, Ben-Avraham D, Barzilai N, Oschwald D, Christen E, Koppel J, Greenwald B, Darnell RB, Germer S, Atzmon G, Davies P.
Freudenberg-Hua Y, et al.
Mol Genet Genomic Med. 2014 Sep;2(5):438-50. doi: 10.1002/mgg3.86. Epub 2014 Jun 15.
Mol Genet Genomic Med. 2014.
PMID: 25333069
Free PMC article.
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Genetic Misdiagnoses and the Potential for Health Disparities.
Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS.
Manrai AK, et al.
N Engl J Med. 2016 Aug 18;375(7):655-65. doi: 10.1056/NEJMsa1507092.
N Engl J Med. 2016.
PMID: 27532831
Free PMC article.
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