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

Bằng Lesca, G, Goizet, C, Durr, A
Được phát hành 2002

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

Bằng Coupry, I., Taine, L., Goizet, C., Soriano, C., Mortemousque, B., Arveiler, B., Lacombe, D.
Được phát hành 2001

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

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

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

Bằng 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.
Được phát hành 2013

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

Bằng 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
Được phát hành 2005

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

Bằng 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
Được phát hành 2006