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

Year Number of Results
2002 1
2003 1
2004 1
2005 2
2006 1
2007 1
2008 3
2013 1
2014 1
2018 2
2019 1
2020 2
2021 1
2022 1
2023 4
2024 0

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20 results

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Page 1
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
Carter MT, Srour M, Au PB, Buhas D, Dyack S, Eaton A, Inbar-Feigenberg M, Howley H, Kawamura A, Lewis SME, McCready E, Nelson TN, Vallance H; Canadian College of Medical Geneticists. Carter MT, et al. Among authors: howley h. J Med Genet. 2023 Jun;60(6):523-532. doi: 10.1136/jmg-2022-108962. Epub 2023 Feb 23. J Med Genet. 2023. PMID: 36822643 Free PMC article.
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Hartley T, Lemire G, Kernohan KD, Howley HE, Adams DR, Boycott KM. Hartley T, et al. Among authors: howley he. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:351-372. doi: 10.1146/annurev-genom-083118-015345. Epub 2020 Apr 13. Annu Rev Genomics Hum Genet. 2020. PMID: 32283948 Review.
Nablus syndrome: Easy to diagnose yet difficult to solve.
Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM. Allanson J, et al. Among authors: howley he. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580486 Review.
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.
Marshall DA, Benchimol EI, MacKenzie A, Duque DR, MacDonald KV, Hartley T, Howley H, Hamilton A, Gillespie M, Malam F, Boycott KM. Marshall DA, et al. Among authors: howley h. Genet Med. 2019 May;21(5):1049-1057. doi: 10.1038/s41436-018-0289-9. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245512 Free article. Review.
A pediatric virtual care evaluation framework and its evolution using consensus methods.
Dulude C, Sutherland S, Vanderhout S, King WJ, Zuijdwijk C, Major N, Audcent T, Howley H, Cloutier P, Buba M, Jain R, Litwinska J, Findlay L, Malic C, Macaulay K, Parker K, Kouri C, Goldbloom EB. Dulude C, et al. Among authors: howley h. BMC Pediatr. 2023 Aug 17;23(1):402. doi: 10.1186/s12887-023-04229-1. BMC Pediatr. 2023. PMID: 37592246 Free PMC article.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Boycott KM, Campeau PM, Howley HE, Pavlidis P, Rogic S, Oriel C, Berman JN, Hamilton RM, Hicks GG, Lipshitz HD, Masson JY, Shoubridge EA, Junker A, Leroux MR, McMaster CR, Michaud JL, Turvey SE, Dyment D, Innes AM, van Karnebeek CD, Lehman A, Cohn RD, MacDonald IM, Rachubinski RA, Frosk P, Vandersteen A, Wozniak RW, Pena IA, Wen XY, Lacaze-Masmonteil T, Rankin C, Hieter P. Boycott KM, et al. Among authors: howley he. Am J Hum Genet. 2020 Feb 6;106(2):143-152. doi: 10.1016/j.ajhg.2020.01.009. Am J Hum Genet. 2020. PMID: 32032513 Free PMC article.
20 results