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Browsing by Author Donnai, D.
Showing results 1 to 6 of 6
| Full Text | Issue Date | Title | Author(s) | | 2011 | Pierpont syndrome: a collaborative study | Wright, E.M.; Suri, M.; White, S.M.; Leeuw, N. de; Vulto-van Silfhout, A.T., et al |
| 2010 | Expanding the clinical spectrum of SLC29A3 gene defects. | Spiegel, R.; Cliffe, S.T.; Buckley, M.F.; Crow, Y.J.; Urquhart, J., et al |
| 2008 | A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. | Day, R.; Beckett, B.; Donnai, D.; Fryer, A.; Heidenblad, M., et al |
| 2006 | CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. | Jongmans, M.C.J.; Admiraal, R.J.C.; Donk, K.P. van der; Vissers, L.E.L.M.; Baas, A., et al |
| 2005 | 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. | Willatt, L.; Cox, J.; Barber, J.; Cabanas, E.D.; Collins, A., et al |
| 1997 | Mutations in CDMP1 cause autosomal dominant brachydactyly type C | Polinkovsky, A.; Robin, N.H.; Thomas, J.T.; Irons, M.; Lynn, A., et al |
Showing results 1 to 6 of 6
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