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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 3
1995 2
1996 2
2001 1
2002 1
2003 3
2006 1
2008 1
2009 1
2010 1
2011 2
2012 1
2013 3
2014 1
2015 2
2017 1
2018 2
2019 1
2020 1
2021 1
2022 1
2023 0
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27 results
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Page 1
An unusual case of alpha-1-antitrypsin deficiency: SZ/Z.
Speevak MD, DeMarco ML, Wiebe NS, Chapman KR. Speevak MD, et al. Clin Biochem. 2019 Feb;64:49-52. doi: 10.1016/j.clinbiochem.2018.12.008. Epub 2018 Dec 21. Clin Biochem. 2019. PMID: 30579752
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. Among authors: speevak md. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.
Bruyère H, Speevak MD, Winsor EJ, de Fréminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M. Bruyère H, et al. Among authors: speevak md. Prenat Diagn. 2006 Apr;26(4):324-9. doi: 10.1002/pd.1406. Prenat Diagn. 2006. PMID: 16521154 Review.
Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
Mattman A, Gilfix BM, Chen SX, DeMarco ML, Kyle BD, Parker ML, Agbor TA, Jung B, Selvarajah S, Barakauskas VE, Vaags AK, Estey MP, Nelson TN, Speevak MD. Mattman A, et al. Among authors: speevak md. Clin Biochem. 2020 Jul;81:27-33. doi: 10.1016/j.clinbiochem.2020.05.001. Epub 2020 May 6. Clin Biochem. 2020. PMID: 32387440
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study; Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Chaudhry A, et al. Among authors: speevak md. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214
27 results