EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

by Losekoot, Monique, van Belzen, Martine J, Seneca, Sara, Bauer, Peter, Stenhouse, Susan A R, Barton, David E
Published 2013

IGSF1 deficiency syndrome: A newly uncovered endocrinopathy

by Joustra, Sjoerd D., van Trotsenburg, A. S. Paul, Sun, Yu, Losekoot, Monique, Bernard, Daniel J., Biermasz, Nienke R., Oostdijk, Wilma, Wit, Jan M.
Published 2013

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

by Hulle, Severine Van, Craen, Margarita, Callewaert, Bert, Joustra, Sjoerd, Oostdijk, Wilma, Losekoot, Monique, Wit, Jan Maarten, Turgeon, Marc Olivier, Bernard, Daniel J., Schepper, Jean De
Published 2016

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

by Kant, Sarina G., Broekman, Sander J., de Wit, Caroline C., Bos, Marloes, Scheltinga, Sitha A., Bakker, Egbert, Oostdijk, Wilma, van der Kamp, Hetty J., van Zwet, Erik W., van der Hout, Annemieke H., Wit, Jan M., Losekoot, Monique
Published 2013

A bone overgrowth disorder due to a gain-of-function mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP

by Kuhn, Michaela, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gaßner, Birgit, Oberwinkler, Heike, Hannema, Sabine E, van Duyvenvoorde, Hermine A, Roelfsema, Ferdinand, Santen, Gijs WE, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke JMH, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia AL, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Wit, Jan M
Published 2013

Mutations in TBL1X Are Associated With Central Hypothyroidism

by Heinen, Charlotte A., Losekoot, Monique, Sun, Yu, Watson, Peter J., Fairall, Louise, Joustra, Sjoerd D., Zwaveling-Soonawala, Nitash, Oostdijk, Wilma, van den Akker, Erica L. T., Alders, Mariëlle, Santen, Gijs W. E., van Rijn, Rick R., Dreschler, Wouter A., Surovtseva, Olga V., Biermasz, Nienke R., Hennekam, Raoul C., Wit, Jan M., Schwabe, John W. R., Boelen, Anita, Fliers, Eric, van Trotsenburg, A. S. Paul
Published 2016

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

by Oostdijk, Wilma, Idkowiak, Jan, Mueller, Jonathan W., House, Philip J., Taylor, Angela E., O'Reilly, Michael W., Hughes, Beverly A., de Vries, Martine C., Kant, Sarina G., Santen, Gijs W. E., Verkerk, Annemieke J. M. H., Uitterlinden, André G., Wit, Jan M., Losekoot, Monique, Arlt, Wiebke
Published 2015