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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2022 | 6 |
2023 | 1 |
2024 | 0 |
Search Results
6 results
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Page 1
RNA Polymerases I and III in development and disease.
Semin Cell Dev Biol. 2023 Feb 28;136:49-63. doi: 10.1016/j.semcdb.2022.03.027. Epub 2022 Apr 11.
Semin Cell Dev Biol. 2023.
PMID: 35422389
Free PMC article.
Review.
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Perrier S, Gauquelin L, Wambach JA, Bernard G.
Perrier S, et al.
Am J Med Genet A. 2022 Feb;188(2):708-712. doi: 10.1002/ajmg.a.62553. Epub 2021 Nov 12.
Am J Med Genet A. 2022.
PMID: 34773388
Free PMC article.
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Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
Michell-Robinson MA, Perrier S, Lucia C, Tran LT, Thiffault I, Köhler W, Bernard G.
Michell-Robinson MA, et al.
Neurology. 2022 Apr 19;98(16):675-677. doi: 10.1212/WNL.0000000000200228. Epub 2022 Feb 21.
Neurology. 2022.
PMID: 35190466
Free PMC article.
No abstract available.
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Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
Pinard M, Dastpeyman S, Poitras C, Bernard G, Gauthier MS, Coulombe B.
Pinard M, et al.
Mol Brain. 2022 Nov 30;15(1):98. doi: 10.1186/s13041-022-00974-z.
Mol Brain. 2022.
PMID: 36451185
Free PMC article.
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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
Macintosh J, Derksen A, Poulin C, Braverman N, Vanderver A, Thiffault I, Albrecht S, Bernard G.
Macintosh J, et al.
Neurogenetics. 2022 Apr;23(2):151-156. doi: 10.1007/s10048-022-00683-8. Epub 2022 Jan 31.
Neurogenetics. 2022.
PMID: 35099671
Free PMC article.
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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Mirchi A, Derksen A, Tran LT, De Bie I, Nadeau A, Lovett A, Raams A, Vermeulen W, Theil AF, Bernard G.
Mirchi A, et al.
Neurogenetics. 2022 Oct;23(4):271-274. doi: 10.1007/s10048-022-00697-2. Epub 2022 Aug 3.
Neurogenetics. 2022.
PMID: 35920923
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