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Clinical Genetics|April 12, 2014
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDGP Yuste-Checa, C Medrano, A Gámez, et al.Human Genetics|October 6, 1998
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)K Devriendt, G Matthijs, B Van Damme, et al.European Journal of Neurology|November 20, 2009
The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALSP Van Damme, A Goris, V Race, et al.Human Molecular Genetics|March 21, 1998
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional geneE Schollen, E Pardon, L Heykants, et al.Leukemia|October 29, 2004
Translocation t(1;6)(p35.3;p25.2): a new recurrent aberration in "unmutated" B-CLLL Michaux, I Wlodarska, K Rack, et al.American Journal of Medical Genetics. Part A|September 11, 2003
Rett syndrome in adolescent and adult females: clinical and molecular genetic findingsE Smeets, E Schollen, U Moog, et al.The EMBO Journal|September 16, 1998
Transformation of hematopoietic cell lines to growth-factor independence and induction of a fatal myelo- and lymphoproliferative disease in mice by retrovirally transduced TEL/JAK2 fusion genesJ Schwaller, J Frantsve, J Aster, et al.American Journal of Human Genetics|March 1, 1997
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenitaK Devriendt, G Matthijs, E Legius, et al.Annals of Neurology|November 1, 1996
Clinical and molecular genetic features of congenital spinal muscular atrophyK Devriendt, M Lammens, E Schollen, et al.Genomics|August 1, 1996
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)G Matthijs, E Legius, E Schollen, et al.Pageof 28