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

di Lesca, G, Goizet, C, Durr, A
Pubblicazione 2002

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

di Coupry, I., Taine, L., Goizet, C., Soriano, C., Mortemousque, B., Arveiler, B., Lacombe, D.
Pubblicazione 2001

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

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

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

di 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.
Pubblicazione 2013

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

di 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
Pubblicazione 2005

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

di 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
Pubblicazione 2006