Amanda C Smith

Amanda C Smith

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Amanda C Smith

Amanda C Smith

Publications by authors named "Amanda C Smith"

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Pediatrician Perspectives on Feasibility and Acceptability of the MOCA-Peds 2017 Pilot.

Pediatrics 2019 Dec 5;144(6). Epub 2019 Nov 5.

The American Board of Pediatrics, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1542/peds.2019-2303DOI Listing
December 2019

Pediatrician Perspectives on Learning and Practice Change in the MOCA-Peds 2017 Pilot.

Pediatrics 2019 Dec 5;144(6). Epub 2019 Nov 5.

The American Board of Pediatrics, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1542/peds.2019-2305DOI Listing
December 2019

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis 2018 07 20;41(4):719-729. Epub 2018 Mar 20.

Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.

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http://dx.doi.org/10.1007/s10545-017-0122-7DOI Listing
July 2018

Fragile X testing as a second-tier test.

Genet Med 2017 12 14;19(12). Epub 2017 Sep 14.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2017.147DOI Listing
December 2017

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

Neurobiol Aging 2015 Feb 6;36(2):1222.e1-5. Epub 2014 Sep 6.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.09.005DOI Listing
February 2015

Neuropathologic features of pontocerebellar hypoplasia type 6.

J Neuropathol Exp Neurol 2014 Nov;73(11):1009-25

From the Calgary Laboratory Services (JTJ) and Alberta Children's Hospital Foundation Research Institute for Child and Maternal Health, Department of Medical Genetics (AMI), University of Calgary, Calgary, Alberta; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario (ACS, MRV, FCC, DEB, JMichaud, KMB); and McGill University and Genome Quebec Innovation Center, Montreal, Quebec (JAS, JMajewski), Canada; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington (RFH, RAD); and Department of Neurological Surgery, University of Washington, Seattle, Washington (RFH).

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http://dx.doi.org/10.1097/NEN.0000000000000123DOI Listing
November 2014