Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia

بواسطة Lesca, G, Goizet, C, Durr, A
منشور في 2002

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion

بواسطة Coupry, I., Taine, L., Goizet, C., Soriano, C., Mortemousque, B., Arveiler, B., Lacombe, D.
منشور في 2001

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

بواسطة Goizet, C, Ben, Y, Demay, L, Richard, P, Bouillot, S, Rouanet, M, Hermosilla, E, Le Masson, G, Lagueny, A, Bonne, G, Ferrer, X
منشور في 2004

Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet

بواسطة Rubin, S., Piffer, A. L. Le, Rougier, M. B., Delyfer, M. N., Korobelnik, J. F., Redonnet-Vernhet, I., Marchal, C., Goizet, C., Mesli, S., Gonzalez, C., Gin, H., Rigalleau, V.
منشور في 2013

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

بواسطة Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh, T, van Bokhoven, H, Fryns, J, Chelly, J, Ropers, H, Moraine, C, Hamel, B, Briault, S
منشور في 2005

A second locus for Aicardi‐Goutières syndrome at chromosome 13q14–21

بواسطة Ali, M, Highet, L J, Lacombe, D, Goizet, C, King, M D, Tacke, U, van der Knaap, M S, Lagae, L, Rittey, C, Brunner, H G, van Bokhoven, H, Hamel, B, Oade, Y A, Sanchis, A, Desguerre, I, Cau, D, Mathieu, N, Moutard, M L, Lebon, P, Kumar, D, Jackson, A P, Crow, Y J
منشور في 2006