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

nork 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
Argitaratua 2011

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

nork 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.
Argitaratua 2012

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

nork 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
Argitaratua 2010-08-01

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

nork 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
Argitaratua 2010

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

nork 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
Argitaratua izan da Eur J Heart Fail (2017)

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

nork 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
Argitaratua izan da J Clin Invest (2016)

Angiogenin Variants in Parkinson Disease and Amyotrophic Lateral Sclerosis

nork 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.
Argitaratua izan da Ann Neurol (2011)