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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z.
Orphanet J Rare Dis. 2020.
PMID: 32276663
Free PMC article.
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: ghai sj.
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.
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Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Mainali A, Athey T, Bahl S, Hung C, Caluseriu O, Chan A, Eaton A, Ghai SJ, Kannu P, MacPherson M, Niederhoffer KY, Siriwardena K, Mercimek-Andrews S.
Mainali A, et al. Among authors: ghai sj.
Am J Med Genet A. 2023 Feb;191(2):510-517. doi: 10.1002/ajmg.a.63053. Epub 2022 Nov 19.
Am J Med Genet A. 2023.
PMID: 36401557
Review.
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Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.
Ghai SJ, Shago M, Shroff M, Yoon G.
Ghai SJ, et al.
Eur J Med Genet. 2011 May-Jun;54(3):272-6. doi: 10.1016/j.ejmg.2011.02.008. Epub 2011 Mar 2.
Eur J Med Genet. 2011.
PMID: 21376145
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