Marina Kerr
Calgary, AB T2L1Y8, Canada
Last Updated: 09/26/2026
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Found 10 publications
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2023
A novel WFS1 variant associated with isolated congenital cataracts.
Journal: Cold Spring Harbor molecular case studies
Published: November 25, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 01, 2022
Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome.
Journal: The Journal of biological chemistry
Published: March 24, 2022
Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.
Journal: The Pan African medical journal
Published: January 20, 2021
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.
Journal: Child neurology open
Published: November 05, 2020
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Journal: Molecular genetics and metabolism
Published: June 08, 2020
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.
Journal: Molecular genetics and metabolism reports
Published: March 10, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026