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

Por Lesca, G, Goizet, C, Durr, A
Publicado em 2002

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

Por Coupry, I., Taine, L., Goizet, C., Soriano, C., Mortemousque, B., Arveiler, B., Lacombe, D.
Publicado em 2001

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

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

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

Por 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.
Publicado em 2013

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

Por 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
Publicado em 2005

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

Por 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
Publicado em 2006