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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2006 | 2 |
2011 | 1 |
2012 | 1 |
2017 | 1 |
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.
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M.
Prigoda NL, et al.
J Med Genet. 2006 Sep;43(9):722-8. doi: 10.1136/jmg.2006.042606. Epub 2006 May 11.
J Med Genet. 2006.
PMID: 16690726
Free PMC article.
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Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
Ali BR, Ben-Rebeh I, John A, Akawi NA, Milhem RM, Al-Shehhi NA, Al-Ameri MM, Al-Shamisi SA, Al-Gazali L.
Ali BR, et al.
PLoS One. 2011;6(10):e26206. doi: 10.1371/journal.pone.0026206. Epub 2011 Oct 14.
PLoS One. 2011.
PMID: 22022569
Free PMC article.
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Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.
Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, Terbrugge KG, White RI Jr.
Nishida T, et al.
Am J Med Genet A. 2012 Nov;158A(11):2829-34. doi: 10.1002/ajmg.a.35622. Epub 2012 Sep 18.
Am J Med Genet A. 2012.
PMID: 22991266
Free PMC article.
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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD, Richards J, George C, Godmilow L, Ganguly A.
Bossler AD, et al.
Hum Mutat. 2006 Jul;27(7):667-75. doi: 10.1002/humu.20342.
Hum Mutat. 2006.
PMID: 16752392
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