Authors:
Bezrookove, V
Hansson, K
van der Burg, M
van der Smagt, JJ
Hilhorst-Hofstee, Y
Wiegant, J
Beverstock, GC
Raap, AK
Tanke, H
Breuning, MH
Rosenberg, C
Citation: V. Bezrookove et al., Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH, HUM GENET, 106(4), 2000, pp. 392-398
Authors:
Petrij, F
Dauwerse, HG
Blough, RI
Giles, RH
van der Smagt, JJ
Wallerstein, R
Maaswinkel-Mooy, PD
van Karnebeek, CD
van Ommen, GJB
van Haeringen, A
Rubinstein, JH
Saal, HM
Hennekam, RCM
Peters, DJM
Breuning, MH
Citation: F. Petrij et al., Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations, J MED GENET, 37(3), 2000, pp. 168-176
Authors:
Hes, FJ
McKee, S
Taphoorn, MJB
Rehal, P
van der Luijt, RB
McMahon, R
van der Smagt, JJ
Dow, D
Zewald, RA
Whittaker, J
Lips, CJM
MacDonald, F
Pearson, PL
Maher, ER
Citation: Fj. Hes et al., Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only, J MED GENET, 37(12), 2000, pp. 939-943