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Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.
Hum Genet. 2024 May;143(5):667-681. doi: 10.1007/s00439-024-02668-z. Epub 2024 Apr 5.
Hum Genet. 2024.
PMID: 38578438
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
Collins Hutchinson ML, St-Onge J, Schlienger S, Boudrahem-Addour N, Mougharbel L, Michaud JF, Lloyd C, Bruneau E, Roux C, Sahly AN, Osterman B, Myers KA, Rouleau GA, Jimenez Cruz DA, Rivière JB, Accogli A, Charron F, Srour M.
Collins Hutchinson ML, et al. Among authors: mougharbel l.
Mov Disord. 2024 Feb;39(2):400-410. doi: 10.1002/mds.29669. Epub 2024 Feb 5.
Mov Disord. 2024.
PMID: 38314870
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mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Krochmalnek E, Accogli A, St-Onge J, Addour-Boudrahem N, Prakash G, Kim SH, Brunette-Clement T, Alhajaj G, Mougharbel L, Bruneau E, Myers KA, Dubeau F, Karamchandani J, Farmer JP, Atkinson J, Hall J, Chantal Poulin C, Rosenblatt B, Lafond-Lapalme J, Weil A, Fallet-Bianco C, Albrecht S, Sonenberg N, Riviere JB, Dudley RW, Srour M.
Krochmalnek E, et al. Among authors: mougharbel l.
Neurol Genet. 2023 Oct 26;9(6):e200103. doi: 10.1212/NXG.0000000000200103. eCollection 2023 Dec.
Neurol Genet. 2023.
PMID: 37900581
Free PMC article.
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Expression of a library of fungal β-glucosidases in Saccharomyces cerevisiae for the development of a biomass fermenting strain.
Wilde C, Gold ND, Bawa N, Tambor JH, Mougharbel L, Storms R, Martin VJ.
Wilde C, et al. Among authors: mougharbel l.
Appl Microbiol Biotechnol. 2012 Aug;95(3):647-59. doi: 10.1007/s00253-011-3788-z. Epub 2012 Jan 5.
Appl Microbiol Biotechnol. 2012.
PMID: 22218767
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