Showing 1 - 7 results of 7 for search 'Fryns, J', query time: 1.32s
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1
Origins of the fragile X syndrome mutation. by Hirst, M, Knight, S, Christodoulou, Z, Grewal, P, Fryns, J, Davies, K
Published 1993Journal article -
2
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. by de Ravel, T, Taylor, I, Van Oostveldt, A, Fryns, J, Wilkie, A
Published 2005Journal article -
3
Genotype prediction in the fragile X syndrome. by Hirst, M, Nakahori, Y, Knight, S, Schwartz, C, Thibodeau, SN, Roche, A, Flint, T, Connor, J, Fryns, J, Davies, K
Published 1991Journal article -
4
GATA3 haplo-insufficiency causes human HDR syndrome. by Van Esch, H, Groenen, P, Nesbit, M, Schuffenhauer, S, Lichtner, P, Vanderlinden, G, Harding, B, Beetz, R, Bilous, R, Holdaway, I, Shaw, N, Fryns, J, Van de Ven, W, Thakker, R, Devriendt, K
Published 2000Journal article -
5
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. by Hannes, F, Sharp, A, Mefford, H, de Ravel, T, Ruivenkamp, C, Breuning, M, Fryns, J, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R, Cooper, G, Regan, R, Knight, S, Eichler, E, Vermeesch, JR
Published 2009Journal article -
6
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant by Hannes, F, Sharp, A, Mefford, H, de Ravel, T, Ruivenkamp, C, Breuning, M, Fryns, J, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R, Cooper, G, Regan, R, Knight, S, Eichler, E, Vermeesch, JR
Published 2009Journal article -
7
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). by Poirier, K, Keays, D, Francis, F, Saillour, Y, Bahi, N, Manouvrier, S, Fallet-Bianco, C, Pasquier, L, Toutain, A, Tuy, F, Bienvenu, T, Joriot, S, Odent, S, Ville, D, Desguerre, I, Goldenberg, A, Moutard, M, Fryns, J, van Esch, H, Harvey, R, Siebold, C, Flint, J, Beldjord, C, Chelly, J
Published 2007Journal article