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Frederique Magdinier
5
Documents
Identifiants chercheurs
- frederique-magdinier
- ResearcherId : I-4735-2016
- 0000-0002-0159-9559
- IdRef : 157603660
- ResearcherId : http://www.researcherid.com/rid/I-4735-2016
Présentation
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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotypeNucleic Acids Research, 2023, ⟨10.1093/nar/gkad523⟩
Article dans une revue
hal-04134959v1
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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatelliteiScience, 2022, 25 (2), pp.103757. ⟨10.1093/nar/gkz005⟩
Article dans une revue
hal-02002680v1
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AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia SyndromeBiomedicines, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩
Article dans une revue
hal-03280671v1
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentNature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩
Article dans une revue
hal-01617529v1
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SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome2022
Pré-publication, Document de travail
hal-03634209v1
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