Jennifer J MacKenzie

4PUBLICATIONS
34CO-AUTHORS
Family careNeurology and neuromuscular diseasesGeneral practiceInfant and child health
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Publications (4)

|Jun 11, 2026
The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

|Jul 02, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Margot A Cousin, Blake A Creighton, Keith A Breau

|Jun 13, 2019
Bridging the gap in genetics: a progressive model for primary to specialist care.

Brittany Harding, Colleen Webber, Lucia Rühland

|Oct 15, 2016
Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature.

Sarah Abdullah, William Reginold, Courtney Kiss

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Frequent Collaborators

1 joint publications

Sarah Abdullah

1 joint publications

William Reginold

1 joint publications

Courtney Kiss

1 joint publications

Margot A Cousin