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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium; Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R. Boycott KM, et al. Among authors: scott jn. Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. Am J Hum Genet. 2015. PMID: 26637978 Free PMC article.
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.
Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS. Boycott KM, et al. Among authors: scott jn. Am J Hum Genet. 2005 Sep;77(3):477-83. doi: 10.1086/444400. Epub 2005 Jul 22. Am J Hum Genet. 2005. PMID: 16080122 Free PMC article.
Autosomal recessive cerebellar hypoplasia in the Hutterite population.
Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR. Glass HC, et al. Among authors: scott jn. Dev Med Child Neurol. 2005 Oct;47(10):691-5. doi: 10.1017/S0012162205001404. Dev Med Child Neurol. 2005. PMID: 16174313 Free article.
Impact of outreach education program on outcomes of neonates with hypoxic ischemic encephalopathy.
Mohammad K, Dharel D, Abou Mehrem A, Esser MJ, Paul R, Zein H, Scott JN, Fiedrich E, Murthy P, Dossani S, Kopores K, Kowal D, Montpetit J, Al Awad E, Thomas S. Mohammad K, et al. Among authors: scott jn. Paediatr Child Health. 2020 Jul 22;26(5):e215-e221. doi: 10.1093/pch/pxaa075. eCollection 2021 Aug. Paediatr Child Health. 2020. PMID: 34938377 Free PMC article.
133 results