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Stefanie Perrier
260  Ergebnisse:
Personensuche X
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1

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/..
 
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2

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/..
 
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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/..
 
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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/..
 
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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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

Pelletier, Félixe ; Perrier, Stefanie ; Cayami, Ferdy K...
The Journal of Clinical Endocrinology & Metabolism.  106 (2020)  2 - p. e660-e674 , 2020
Link: https://doi.org/10.1210/..
 
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15

Multiple left-sided stenotic lesions: outcomes after mitral..:

Perrier, Stephanie L ; Jadhav, Mangesh ; d'Udekem, Yves...
European Journal of Cardio-Thoracic Surgery.  58 (2020)  3 - p. 567-573 , 2020
Link: https://doi.org/10.1093/..
 
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