Stefanie Perrier
6PUBLICATIONS
12CO-AUTHORS
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Publications (6)
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|Apr 14, 2025
Novel Pathogenic Variants in <i>POLR3K</i> Cause POLR3-Related Leukodystrophy.Stefanie Perrier, Julia Macintosh, Agata D Misiaszek
|Aug 28, 2023
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.Mackenzie A Michell-Robinson, Kristin E N Watt, Vladimir Grouza
|Feb 22, 2022
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.Mackenzie A Michell-Robinson, Stefanie Perrier, Cassandra Lucia
|Nov 13, 2021
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.Stefanie Perrier, Laurence Gauquelin, Jennifer A Wambach
|Jan 25, 2021
Classifying Hypomyelination: A Critical (White) Matter.Stefanie Perrier, Sara Matovic, Geneviève Bernard
|Sep 01, 2017
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.S Perrier, L Gauquelin, M Tétreault
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Frequent Collaborators
2 joint publications
Christoph W Müller
2 joint publications
Geneviève Bernard
1 joint publications
Mackenzie A Michell-Robinson
1 joint publications
Timothy C Cox
1 joint publications
Paul A Trainor
1 joint publications
Julia Macintosh
1 joint publications
Agata D Misiaszek
1 joint publications
Kether Guerrero
1 joint publications
Luan T Tran
1 joint publications
Tomi Pastinen
