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

Year Number of Results
1977 2
1978 2
1981 1
1982 1
1987 1
1997 1
2001 1
2006 1
2007 1
2008 6
2009 2
2010 1
2011 7
2012 6
2013 4
2014 5
2015 3
2016 9
2017 4
2018 1
2019 5
2020 5
2021 2
2022 0
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65 results
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Page 1
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: maranda b. Orphanet J Rare Dis. 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. Orphanet J Rare Dis. 2020. PMID: 31937333 Free PMC article. Review.
The Québec NTBC Study.
Québec NTBC Study Group, Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF. Québec NTBC Study Group, et al. Among authors: maranda b. Adv Exp Med Biol. 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17. Adv Exp Med Biol. 2017. PMID: 28755196 Review.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: maranda b. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
Early-onset emphysema in a large French-Canadian family: a genetic investigation.
Bossé Y, Lamontagne M, Gaudreault N, Racine C, Levesque MH, Smith BM, Auger D, Clemenceau A, Paré MÈ, Laviolette L, Tremblay V, Maranda B, Morissette MC, Maltais F. Bossé Y, et al. Among authors: maranda b. Lancet Respir Med. 2019 May;7(5):427-436. doi: 10.1016/S2213-2600(19)30056-6. Epub 2019 Apr 15. Lancet Respir Med. 2019. PMID: 31000475
Novel founder mutation in French-Canadian families with Naxos disease.
Marino TC, Maranda B, Leblanc J, Pratte A, Barabas M, Dupéré A, Lévesque S. Marino TC, et al. Among authors: maranda b. Clin Genet. 2017 Oct;92(4):451-453. doi: 10.1111/cge.12971. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28098346 No abstract available.
65 results