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

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

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

por Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Publicado 2015

Erratum

por Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Publicado 2016

Benign and malignant tumors in Rubinstein–Taybi syndrome

por Boot, Max V., van Belzen, Martine J., Overbeek, Lucy I., Hijmering, Nathalie, Mendeville, Matias, Waisfisz, Quinten, Wesseling, Pieter, Hennekam, Raoul C., de Jong, Daphne
Publicado 2018

Making (anti-) sense out of huntingtin levels in Huntington disease

por Evers, Melvin M, Schut, Menno H, Pepers, Barry A, Atalar, Melek, van Belzen, Martine J, Faull, Richard LM, Roos, Raymund AC, van Roon-Mom, Willeke MC
Publicado 2015

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

Huntingtin gene repeat size variations affect risk of lifetime depression

por Gardiner, Sarah L., van Belzen, Martine J., Boogaard, Merel W., van Roon-Mom, Willeke M. C., Rozing, Maarten P., van Hemert, Albert M., Smit, Johannes H., Beekman, Aartjan T. F., van Grootheest, Gerard, Schoevers, Robert A., Oude Voshaar, Richard C., Roos, Raymund A. C., Comijs, Hannie C., Penninx, Brenda W. J. H., van der Mast, Roos C., Aziz, N. Ahmad
Publicado 2017