Paternal age and psychiatric disorders: findings from a Dutch population registry

Por Buizer-Voskamp, Jacobine E, Laan, Wijnand, Staal, Wouter G, Hennekam, Eric AM, Aukes, Maartje F, Termorshuizen, Fabian, Kahn, René S, Boks, Marco PM, Ophoff, Roel A
Publicado em 2011

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Por van Blitterswijk, Marka, Vlam, Lotte, van Es, Michael A., van der Pol, W-Ludo, Hennekam, Eric A. M., Dooijes, Dennis, Schelhaas, Helenius J., van der Kooi, Anneke J., de Visser, Marianne, Veldink, Jan H., van den Berg, Leonard H.
Publicado em 2012

A novel pathogenic <it>MLH1 </it>missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

Por van Riel Els, Ausems Margreet GEM, Hogervorst Frans BL, Kluijt Irma, van Gijn Marielle E, van Echtelt Jeanne, Scheidel-Jacobse Karen, Hennekam Eric FAM, Stulp Rein P, Vos Yvonne J, Offerhaus G Johan A, Menko Fred H, Gille Johan JP
Publicado em 2010-08-01

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

Por van Riel, Els, Ausems, Margreet GEM, Hogervorst, Frans BL, Kluijt, Irma, van Gijn, Marielle E, van Echtelt, Jeanne, Scheidel-Jacobse, Karen, Hennekam, Eric FAM, Stulp, Rein P, Vos, Yvonne J, Offerhaus, G Johan A, Menko, Fred H, Gille, Johan JP
Publicado em 2010

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

Por Hoorntje, Edgar T., van Spaendonck‐Zwarts, Karin Y., te Rijdt, Wouter P., Boven, Ludolf, Vink, Aryan, van der Smagt, Jasper J., Asselbergs, Folkert W., van Wijngaarden, Jan, Hennekam, Eric A., Pinto, Yigal M., Lekanne Deprez, Ronald H., Barge‐Schaapveld, Daniela Q.C.M., Bootsma, Marianne, Regieli, Jakub, Hoedemaekers, Yvonne M., Jongbloed, Jan D.H., van den Berg, Maarten P., van Tintelen, J. Peter
Publicado no Eur J Heart Fail (2017)

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Por van der Crabben, Saskia N., Hennus, Marije P., McGregor, Grant A., Ritter, Deborah I., Nagamani, Sandesh C.S., Wells, Owen S., Harakalova, Magdalena, Chinn, Ivan K., Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M., Terheggen-Lagro, Suzanne W., van Lieshout, Stef, van Roosmalen, Markus J., Renkens, Ivo, Duran, Karen, Nijman, Isaac J., Kloosterman, Wigard P., Hennekam, Eric, Orange, Jordan S., van Hasselt, Peter M., Wheeler, David A., Palecek, Jan J., Lehmann, Alan R., Oliver, Antony W., Pearl, Laurence H., Plon, Sharon E., Murray, Johanne M., van Haaften, Gijs
Publicado no J Clin Invest (2016)

Angiogenin Variants in Parkinson Disease and Amyotrophic Lateral Sclerosis

Por van Es, Michael A., Schelhaas, Helenius J., van Vught, Paul W. J., Ticozzi, Nicola, Andersen, Peter M., Groen, Ewout J. N., Schulte, Claudia, Blauw, Hylke M., Koppers, Max, Diekstra, Frank P., Fumoto, Katsumi, LeClerc, Ashley Lyn, Keagle, Pamela, Bloem, Bastiaan R., Scheffer, Hans, van Nuenen, Bart F. L., van Blitterswijk, Marka, van Rheenen, Wouter, Wills, Anne-Marie, Lowe, Patrick P., Hu, Guo-fu, Yu, Wenhao, Kishikawa, Hiroko, Wu, David, Folkerth, Rebecca D., Mariani, Claudio, Goldwurm, Stefano, Pezzoli, Gianni, Van Damme, Philip, Lemmens, Robin, Dahlberg, Caroline, Birve, Anna, Fernández-Santiago, Rubén, Waibel, Stefan, Klein, Christine, Weber, Markus, van der Kooi, Anneke J., de Visser, Marianne, Verbaan, Dagmar, van Hilten, Jacobus J., Heutink, Peter, Hennekam, Eric A. M., Cuppen, Edwin, Berg, Daniela, Brown, Robert H., Silani, Vincenzo, Gasser, Thomas, Ludolph, Albert C., Robberecht, Wim, Ophoff, Roel A., Veldink, Jan H., Pasterkamp, R. Jeroen, de Bakker, Paul I. W., Landers, John E., van de Warrenburg, Bart P., van den Berg, Leonard H.
Publicado no Ann Neurol (2011)