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Year | Number of Results |
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2016 | 1 |
2018 | 1 |
2020 | 1 |
2021 | 1 |
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Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
J Clin Med. 2021 Aug 28;10(17):3868. doi: 10.3390/jcm10173868.
J Clin Med. 2021.
PMID: 34501319
Free PMC article.
Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.
Thuriot F, Gravel E, Buote C, Doyon M, Lapointe E, Marcoux L, Larue S, Nadeau A, Chénier S, Waters PJ, Jacques PÉ, Gravel S, Lévesque S.
Thuriot F, et al. Among authors: gravel e.
Neurol Genet. 2020 Mar 13;6(2):e408. doi: 10.1212/NXG.0000000000000408. eCollection 2020 Apr.
Neurol Genet. 2020.
PMID: 32337335
Free PMC article.
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Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.
Thuriot F, Buote C, Gravel E, Chénier S, Désilets V, Maranda B, Waters PJ, Jacques PE, Lévesque S.
Thuriot F, et al. Among authors: gravel e.
Genet Med. 2018 Sep;20(9):942-949. doi: 10.1038/gim.2017.239. Epub 2018 Feb 1.
Genet Med. 2018.
PMID: 29388948
Free article.
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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
Lévesque S, Auray-Blais C, Gravel E, Boutin M, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A, Mathieu J, Maranda B, Désilets V, Waters PJ, Keutzer J, Austin S, Kishnani P.
Lévesque S, et al. Among authors: gravel e.
Orphanet J Rare Dis. 2016 Jan 25;11:8. doi: 10.1186/s13023-016-0390-6.
Orphanet J Rare Dis. 2016.
PMID: 26809617
Free PMC article.
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