Jennifer J MacKenzie

Jennifer J MacKenzie

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Jennifer J MacKenzie

Jennifer J MacKenzie

Publications by authors named "Jennifer J MacKenzie"

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12Publications

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Atypical late presentation of galactosemia.

Can J Ophthalmol 2019 08 24;54(4):e194-e196. Epub 2018 Nov 24.

Queen's University, Department of Ophthalmology, Kingston Health Sciences Centre, Hotel Dieu Hospital, Kingston, Ont.. Electronic address:

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http://dx.doi.org/10.1016/j.jcjo.2018.10.004DOI Listing
August 2019

Bridging the gap in genetics: a progressive model for primary to specialist care.

BMC Med Educ 2019 Jun 11;19(1):195. Epub 2019 Jun 11.

Department of Pediatrics, McMaster Children's Hospital, 1280, Main St. West, 3N11-G, Hamilton, Ontario, L8S 4K1, Canada.

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http://dx.doi.org/10.1186/s12909-019-1622-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558677PMC
June 2019

Primary care providers' lived experiences of genetics in practice.

J Community Genet 2019 Jan 26;10(1):85-93. Epub 2018 Apr 26.

Department of Pediatrics, McMaster Children's Hospital, 1280 Main St. West, 3N11-G, Hamilton, ON, L8S 4K1, Canada.

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http://dx.doi.org/10.1007/s12687-018-0364-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325046PMC
January 2019

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Am J Hum Genet 2017 Aug 20;101(2):206-217. Epub 2017 Jul 20.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Johannes Gutenberg University, Mainz 55122, Germany; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Centre, Manchester M13 9NT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173024
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http://dx.doi.org/10.1016/j.ajhg.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544382PMC
August 2017

Parents' Understanding of Genetics and Heritability.

J Genet Couns 2017 Jun 17;26(3):541-547. Epub 2016 Oct 17.

Department of Pediatrics, Queen's University, Kingston, ON, Canada.

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http://dx.doi.org/10.1007/s10897-016-0021-3DOI Listing
June 2017

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature.

Case Rep Pediatr 2016 21;2016:6123150. Epub 2016 Sep 21.

School of Medicine, Queen's University, Kingston, ON, Canada; Department of Pediatrics, Kingston General Hospital, Kingston, ON, Canada.

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http://dx.doi.org/10.1155/2016/6123150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050361PMC
September 2016

Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.

Pediatr Neurol 2014 Aug 12;51(2):192-7. Epub 2014 Apr 12.

Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.002DOI Listing
August 2014

Gaucher disease associated with parkinsonism: four further case reports.

Am J Med Genet A 2003 Feb;116A(4):348-51

3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1002/ajmg.a.10028DOI Listing
February 2003