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Campeau PM
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Family name
Campeau
Given name
Philippe M
Initials
PM
ORCID
ORCID
0000-0002-0139-8239
Affiliations
Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
2 publications
PubMed
DOI
Crossref
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P
, Lindelöf H,
Rustad CF
, ...,
Girisha KM
, Grigelioniene G
npj Genom. Med.
8
(1) 39 [2023-11-22; online 2023-11-22]
Clinical Genomics Stockholm [Service]
PubMed
DOI
Crossref
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA
, Tossing G, Mulroe F, ...,
Campeau PM
,
Escayg A
Brain
-
(-) - [2022-09-08; online 2022-09-08]
Clinical Genomics Stockholm [Service]
SciLifeLab Data Centre
Publications
9.5.1