Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

por Mihalatos, Markos, Apessos, Angela, Dauwerse, Hans, Velissariou, Voula, Psychias, Aristidis, Koliopanos, Alexander, Petropoulos, Konstantinos, Triantafillidis, John K, Danielidis, Ioannis, Fountzilas, George, Agnantis, Niki J, Nasioulas, Georgios
Publicado 2005

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

por Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, van Belzen, Martine J., van der Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Publicado 2016

Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

por Borràs, Daniel M., Vossen, Rolf H. A. M., Liem, Michael, Buermans, Henk P. J., Dauwerse, Hans, van Heusden, Dave, Gansevoort, Ron T., den Dunnen, Johan T., Janssen, Bart, Peters, Dorien J. M., Losekoot, Monique, Anvar, Seyed Yahya
Publicado 2017

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

por Knight, Melanie A., Hernandez, Dena, Diede, Scott J., Dauwerse, Hans G., Rafferty, Ian, van de Leemput, Joyce, Forrest, Susan M., Gardner, R.J.McKinlay, Storey, Elsdon, van Ommen, Gert-Jan B., Tapscott, Stephen J., Fischbeck, Kenneth H., Singleton, Andrew B.
Publicado 2008

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

por Rutten, Julie W., Klever, Roselin R., Hegeman, Ingrid M., Poole, Dana S., Dauwerse, Hans G., Broos, Ludo A. M., Breukel, Cor, Aartsma-Rus, Annemieke M., Verbeek, J. Sjef, van der Weerd, Louise, van Duinen, Sjoerd G., van den Maagdenberg, Arn M. J. M., Lesnik Oberstein, Saskia A. J.
Publicado 2015