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Macintosh, Julia
89  results:
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1

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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2

Decreased RNA polymerase III Expression Leads to Several De..:

Macintosh, Julia ; Michell-Robinson, Mackenzie A. ; Chen, Xiaoru.
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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3

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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4

An optimized and validated protocol for the purification of..:

Macintosh, Julia ; Michell-Robinson, Mackenzie A. ; Chen, Xiaoru...
MethodsX.  10 (2023)  - p. 102051 , 2023
Link: https://doi.org/10.1016/..
 
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5

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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6

Decreased RNA polymerase III subunit expression leads to de..:

Macintosh, Julia ; Michell-Robinson, Mackenzie ; Chen, Xiaoru.
Frontiers in Neuroscience.  17 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

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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8

RNA Polymerases I and III in development and disease:

Watt, Kristin EN ; Macintosh, Julia ; Bernard, Geneviève.
Seminars in Cell & Developmental Biology.  136 (2023)  - p. 49-63 , 2023
Link: https://doi.org/10.1016/..
 
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9

Novel biallelic variants in NRROS associated with a lethal ..:

Macintosh, Julia ; Derksen, Alexa ; Poulin, Chantal...
neurogenetics.  23 (2022)  2 - p. 151-156 , 2022
Link: https://doi.org/10.1007/..
 
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10

Biallelic pathogenic variants in POLR3D alter tRNA transcri..:

Macintosh, Julia ; Perrier, Stefanie ; Pinard, Maxime...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616956/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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11

Decreased RNA polymerase III subunit expression leads to de..:

Macintosh, Julia ; Michell-Robinson, Mackenzie ; Chen, Xiaoru.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167296/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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12

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelina..:

Macintosh, Julia ; Thiffault, Isabelle ; Pastinen, Tomi..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240855/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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13

An optimized and validated protocol for the purification of..:

Macintosh, Julia ; Michell-Robinson, Mackenzie A ; Chen, Xiaoru...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939712/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

An optimized and validated protocol for the purification of..:

Julia Macintosh ; Mackenzie A. Michell-Robinson ; Xiaoru Chen...
http://www.sciencedirect.com/science/article/pii/S2215016123000547.  , 2023
Link: https://doi.org/10.1016/..
 
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15

Decreased RNA polymerase III subunit expression leads to de..:

Julia Macintosh ; Mackenzie Michell-Robinson ; Xiaoru Chen.
https://www.frontiersin.org/articles/10.3389/fnins.2023.1167047/full.  , 2023
Link: https://doi.org/10.3389/..
 
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