MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

per Schenk, Barbara, Imbach, Timo, Frank, Christian G., Grubenmann, Claudia E., Raymond, Gerald V., Hurvitz, Haggit, Raas-Rotschild, Annick, Luder, Anthony S., Jaeken, Jaak, Berger, Eric G., Matthijs, Gert, Hennet, Thierry, Aebi, Markus
Publicat 2001

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

per Schenk, Barbara, Imbach, Timo, Frank, Christian G., Grubenmann, Claudia E., Raymond, Gerald V., Hurvitz, Haggit, Raas-Rotschild, Annick, Luder, Anthony S., Jaeken, Jaak, Berger, Eric G., Matthijs, Gert, Hennet, Thierry, Aebi, Markus, Jaeken, Jaak
Publicat 2003

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

per van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., Vanmolkot, Kaate R. J., van Beusekom, Ellen, van Beersum, Sylvia E. C., Celli, Jacopo, Merkx, Gerard F. M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R. W., Neri, Giovanni, Brunner, Han G.
Publicat 2001