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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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2012 | 1 |
2013 | 2 |
2016 | 1 |
2017 | 3 |
2024 | 0 |
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5 results
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Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
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.
Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.
Ramond F, Janin A, Di Filippo S, Chanavat V, Chalabreysse L, Roux-Buisson N, Sanlaville D, Touraine R, Millat G.
Ramond F, et al.
Clin Genet. 2017 Jan;91(1):126-130. doi: 10.1111/cge.12780. Epub 2016 Apr 26.
Clin Genet. 2017.
PMID: 27030002
Item in Clipboard
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.
Sonoda K, Ohno S, Otuki S, Kato K, Yagihara N, Watanabe H, Makiyama T, Minamino T, Horie M.
Sonoda K, et al.
Europace. 2017 Apr 1;19(4):644-650. doi: 10.1093/europace/euw038.
Europace. 2017.
PMID: 28431057
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Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy.
Roberts JD, Herkert JC, Rutberg J, Nikkel SM, Wiesfeld AC, Dooijes D, Gow RM, van Tintelen JP, Gollob MH.
Roberts JD, et al.
Clin Genet. 2013 May;83(5):452-6. doi: 10.1111/j.1399-0004.2012.01950.x. Epub 2012 Sep 10.
Clin Genet. 2013.
PMID: 22889254
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Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A.
Li Mura IE, et al.
Eur J Hum Genet. 2013 Nov;21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13.
Eur J Hum Genet. 2013.
PMID: 23486541
Free PMC article.
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