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Browsing by Author Donnai, D.

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Showing results 1 to 6 of 6
Full TextIssue DateTitleAuthor(s)
2011Pierpont syndrome: a collaborative studyWright, E.M.; Suri, M.; White, S.M.; Leeuw, N. de; Vulto-van Silfhout, A.T., et al
2010Expanding the clinical spectrum of SLC29A3 gene defects.Spiegel, R.; Cliffe, S.T.; Buckley, M.F.; Crow, Y.J.; Urquhart, J., et al
2008A 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
2006CHARGE 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
20053q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Willatt, L.; Cox, J.; Barber, J.; Cabanas, E.D.; Collins, A., et al
1997Mutations in CDMP1 cause autosomal dominant brachydactyly type CPolinkovsky, A.; Robin, N.H.; Thomas, J.T.; Irons, M.; Lynn, A., et al
Showing results 1 to 6 of 6

 

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