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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2006 | 1 |
2012 | 1 |
2013 | 1 |
2017 | 1 |
2024 | 0 |
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Page 1
Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.
Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA.
Xing Y, et al.
Mol Genet Metab. 2006 May;88(1):71-7. doi: 10.1016/j.ymgme.2005.11.009. Epub 2006 Jan 19.
Mol Genet Metab. 2006.
PMID: 16427346
Item in Clipboard
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
Aradhya S, Lewis R, Bonaga T, Nwokekeh N, Stafford A, Boggs B, Hruska K, Smaoui N, Compton JG, Richard G, Suchy S.
Aradhya S, et al.
Genet Med. 2012 Jun;14(6):594-603. doi: 10.1038/gim.2011.65. Epub 2012 Mar 1.
Genet Med. 2012.
PMID: 22382802
Free article.
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New clinical and molecular insights on Barth syndrome.
Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A.
Ferri L, et al.
Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27.
Orphanet J Rare Dis. 2013.
PMID: 23409742
Free PMC article.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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