Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients by Bank, Ruud A., Groener, Johanna E.M., van Gemund, Justus J., Maaswinkel, Petra D., Hoeben, Kees A., Schut, Herman A., Everts, Vincent

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations by Petrij, Fred, Dauwerse, Hans G, Blough, Ruthann I, Giles, Rachel H, van der Smagt, Jasper J, Wallerstein, Robert, Maaswinkel-Mooy, Petra D, van Karnebeek, Clara D, van Ommen, Gert-Jan B, van Haeringen, Arie, Rubinstein, Jack H, Saal, Howard M, Hennekam, Raoul C M, Peters, Dorien J M, Breuning, Martijn H

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Oculoauriculovertebral spectrum and cerebral anomalies by Schrander-Stumpel, C T, de Die-Smulders, C E, Hennekam, R C, Fryns, J P, Bouckaert, P X, Brouwer, O F, da Costa, J J, Lommen, E J, Maaswinkel-Mooy, P D

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome by Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, Engel, Wolfgang

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