Loss of Heterozygosity Is Present in SEC63 Germline Carriers with Polycystic Liver Disease

nork Janssen, Manoe J., Salomon, Jody, te Morsche, René H. M., Drenth, Joost P. H.
Argitaratua 2012

Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene

nork Cnossen, Wybrich R., Maurits, Jake S.F., Salomon, Jody, te Morsche, René H.M., Waanders, Esmé, Drenth, Joost P. H.
Argitaratua izan da J Clin Lab Anal (2015)

Depolarized Inactivation Overcomes Impaired Activation to Produce DRG Neuron Hyperexcitability in a Na(v)1.7 Mutation in a Patient with Distal Limb Pain

nork Huang, Jianying, Yang, Yang, Dib-Hajj, Sulayman D., van Es, Michael, Zhao, Peng, Salomon, Jody, Drenth, Joost P.H., Waxman, Stephen G.
Argitaratua izan da J Neurosci (2014)

Polymorphisms in the Insulin-Like Growth Factor Axis Are Associated with Gastrointestinal Cancer

nork Ong, Jennie, Salomon, Jody, te Morsche, Rene H. M., Roelofs, Hennie M. J., Witteman, Ben J. M., Dura, Polat, Lacko, Martin, Peters, Wilbert H. M.
Argitaratua 2014

No role for glutathione S-transferase genotypes in Caucasian esophageal squamous cell or adenocarcinoma etiology: an European case–control study

nork Dura, Polat, Salomon, Jody, Te Morsche, Rene HM, Roelofs, Hennie MJ, Kristinsson, Jon O, Wobbes, Theo, Witteman, Ben JM, Tan, Adriaan CITL, Drenth, Joost PH, Peters, Wilbert HM
Argitaratua 2013

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

nork Wills, Edgar S, Cnossen, Wybrich R, Veltman, Joris A, Woestenenk, Rob, Steehouwer, Marloes, Salomon, Jody, te Morsche, René H M, Huch, Meritxell, Hehir-Kwa, Jayne Y, Banning, Martijn J, Pfundt, Rolph, Roepman, Ronald, Hoischen, Alexander, Drenth, Joost P H
Argitaratua izan da Eur J Hum Genet (2016)

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

nork Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.
Argitaratua izan da Am J Hum Genet (2016)

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

nork Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Argitaratua izan da Am J Hum Genet (2016)