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Perrier, Stefanie
261
results:
Search for persons
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Format
Online (261)
Mediatypes
Articles (Online) (79)
Bookchapter (Online) (2)
OpenAccess-fulltext (180)
Languages
english (214)
french (37)
Sorted by: Relevance
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1
Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leu..:
Perrier, Stefanie
;
Macintosh, Julia
;
Misiaszek, Agata D.
...
Human Mutation. 2024 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1155/..
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2
Pdgfrα-dependent Polr3b Exon Loss Recapitulates POLR3-relat..:
Michell-Robinson, Mackenzie A.
;
Watt, Kristin E.N.
;
Grouza, Vladimir
...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023
Link:
https://doi.org/10.1212/..
?
3
Recapitulation of POLR3-related hypomyelinating leukodystro..:
Michell-Robinson, Mackenzie
;
Watt, Kristin
;
Grouza, Vladimir
...
Journal of the Neurological Sciences. 455 (2023) - p. 121280 , 2023
Link:
https://doi.org/10.1016/..
?
4
Hypomyelination, hypodontia and craniofacial abnormalities ..:
Michell-Robinson, Mackenzie A
;
Watt, Kristin E N
;
Grouza, Vladimir
...
Brain. 146 (2023) 12 - p. 5070-5085 , 2023
Link:
https://doi.org/10.1093/..
?
5
Biallelic pathogenic variants in POLR3D alter tRNA transcri..:
Macintosh, Julia
;
Perrier, Stefanie
;
Pinard, Maxime
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
6
Hypomyelination caused by a novel homozygous pathogenic var..:
Potic, Ana
;
Perrier, Stefanie
;
Radovic, Tijana
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
7
Solving inherited white matter disorder etiologies in the n..:
Perrier, Stefanie
;
Guerrero, Kether
;
Tran, Luan T.
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
8
Colorectal cancer among farmers in the AGRICAN cohort study:
Talibov, Madar
;
Tual, Séverine
;
Morlais, Fabrice
...
Cancer Epidemiology. 78 (2022) - p. 102125 , 2022
Link:
https://doi.org/10.1016/..
?
9
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leu..:
Michell-Robinson, Mackenzie A.
;
Perrier, Stefanie
;
Lucia, Cassandra
...
Neurology. 98 (2022) 16 - p. 675-677 , 2022
Link:
https://doi.org/10.1212/..
?
10
Longitudinal study of DNA in lymphocytes of female farmers ..:
Evenden, Poppy
;
Lecluse, Yannick
;
Lacauve, Anne-Sophie
...
Safety and Health at Work. 13 (2022) - p. S132-S133 , 2022
Link:
https://doi.org/10.1016/..
?
11
Protection From Radiation-Induced Neuroanatomic Deficits by..:
de Guzman, A. Elizabeth
;
Ahmed, Mashal
;
Perrier, Stefanie
...
International Journal of Radiation Oncology*Biology*Physics. 113 (2022) 2 - p. 390-400 , 2022
Link:
https://doi.org/10.1016/..
?
12
Agriculture Exposure and Time to Pregnancy Among Women Enro..:
Pons, Romain
;
Boulanger, Mathilde
;
Tual, Séverine
...
Journal of Occupational & Environmental Medicine. 63 (2021) 5 - p. 432-440 , 2021
Link:
https://doi.org/10.1097/..
?
13
Distinguishing severe phenotypes associated with pathogenic..:
Perrier, Stefanie
;
Gauquelin, Laurence
;
Wambach, Jennifer A.
.
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 708-712 , 2021
Link:
https://doi.org/10.1002/..
?
14
POLR3-Related Leukodystrophy: Exploring Potential Therapeut..:
Perrier, Stefanie
;
Michell-Robinson, Mackenzie A.
;
Bernard, Geneviève
Frontiers in Cellular Neuroscience. 14 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
15
Classifying Hypomyelination: A Critical (White) Matter:
Perrier, Stefanie
;
Matovic, Sara
;
Bernard, Geneviève
Child Neurology Open. 7 (2020) - p. 2329048X2098376 , 2020
Link:
https://doi.org/10.1177/..
1-15