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Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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| 2 |
Identification of Large Families in Early Repolarization Syndrome.
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In: ISSN: 0735-1097 ; Journal of the American College of Cardiology ; https://hal.archives-ouvertes.fr/hal-00879642 ; Journal of the American College of Cardiology, Elsevier, 2013, 61 (2), pp.164-72. ⟨10.1016/j.jacc.2012.09.040⟩ (2013)
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Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
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In: ISSN: 1364-6745 ; EISSN: 1364-6753 ; neurogenetics ; https://hal.archives-ouvertes.fr/hal-00281700 ; neurogenetics, Springer Verlag, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩ (2006)
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