- CNV-webStore: online CNV analysis, storage and interpretation(2011)
Auteurs: Geert Vandeweyer, Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, Frank Kooy
Pagina's: 4,1 - 4,8
- Loss-of-function mutations in **PTPN11** cause metachondromatosis, but not Ollier disease or Maffucci syndrome(2011)
Auteurs: Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm, Wim Wuyts, et al.
Pagina's: 1 - 11
- Gain-of-function mutations of **ARHGAP31**, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies(2011)
Auteurs: Laura Southgate, Rajiv D. Machado, Katie M. Snape, Martin Primeau, Dimitra Dafou, Deborah M. Ruddy, Peter A. Branney, Malcolm Fisher, Grace J. Lee, Michael A. Simpson, et al.
Pagina's: 574 - 585
- Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses(2011)
Auteurs: Elena Pedrini, Ivy Jennes, Morena Tremosini, Wim Wuyts, et al.
Pagina's: 2294 - 2302
- Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families(2011)
Auteurs: Ivy Jennes, Danielle de Jong, Kirsten Mees, Pancras C.W. Hogendoorn, Karoly Szuhai, Wim Wuyts
Pagina's: 85,1 - 85,9
- Expanding the spectrum of **FOXC1** and **PITX2** mutations and copy number changes in patients with anterior segment malformations(2011)
Auteurs: Barbara d' Haene, Françoise Meire, Ilse Claerhout, Wim Wuyts, et al.
Pagina's: 324 - 333
- A novel DFNB1 deletion allele supports the existence of a distant **cis**-regulatory region that controls **GJB2** and **GJB6** expression(2010)
Auteurs: E. Wilch, H. Azaiez, R.A. Fisher, J. Elfenbein, A. Murgia, R. Birkenhäger, H. Bolz, S.M. da Silva-Costa, I. del Catillo, T. Haaf, et al.
Pagina's: 267 - 274
- **KRAS** mutation detection and prognostic potential in sporadic colorectal cancer using high-resolution melting analysis(2010)
Auteurs: Carolien Boeckx, Marc Baay, Joost Weyler, Wim Wuyts, Marc Peeters, Filip Lardon, Jan Vermorken
Pagina's: 1627 - 1636
- Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)(2009)
Auteurs: Ivy Jennes, Elena Pedrini, Monia Zuntini, Marina Mordenti, Sahila Balkassmi, Carla G. Asteggiano, Brett Casey, Bert Bakker, Luca Sangiorgi, Wim Wuyts
Pagina's: 1620 - 1627
- Multiple exostoses, hereditary(2009)
Auteurs: Wim Wuyts, Wim Van Hul
Pagina's: 791
