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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Genes (Basel). 2022 Jul 19;13(7):1277. doi: 10.3390/genes13071277.
Genes (Basel). 2022.
PMID: 35886062
Free PMC article.
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, Acosta I, Urtizberea JA, Lévy N, Bartoli M, Krahn M, Jara L, Caviedes P, Gorokhova S, Bevilacqua JA.
Cerino M, et al. Among authors: abaji m.
Genes (Basel). 2022 Jun 16;13(6):1076. doi: 10.3390/genes13061076.
Genes (Basel). 2022.
PMID: 35741838
Free PMC article.
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Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D.
Ruault V, et al. Among authors: abaji m.
Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26.
Am J Med Genet A. 2020.
PMID: 31876365
Free article.
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TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F.
Abaji M, et al.
J Med Genet. 2023 Oct;60(10):1021-1025. doi: 10.1136/jmg-2022-108677. Epub 2023 Feb 27.
J Med Genet. 2023.
PMID: 36849228
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