Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2->qter Deletion Detected by Mult... by Walenkamp, Marie J. E., de Muinck Keizer-Schrama, Sabine M. P. F., de Mos, Marianne, Kalf, Margot E., van Duyvenvoorde, Hermine A., Boot, Annemieke M., Kant, Sarina G., White, Stefan J., Losekoot, Monique, Den Dunnen, Johan T., Karperien, Marcel, Wit, Jan M.

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Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase by Lesnik Oberstein, Saskia A.J., Kriek, Marjolein, White, Stefan J., Kalf, Margot E., Szuhai, Karoly, den Dunnen, Johan T., Breuning, Martijn H., Hennekam, Raoul C.M.

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Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization by White, Stefan, Kalf, Margot, Liu, Qiang, Villerius, Michel, Engelsma, Dieuwke, Kriek, Marjolein, Vollebregt, Ellen, Bakker, Bert, van Ommen, Gert-Jan B., Breuning, Martijn H., den Dunnen, Johan T.

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