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Displaying 5 results.
    • Journal article
    Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
    Klopocki, Eva Hennig, Bianca P. Dathe, Katarina Koll, Randi de Ravel, Thomy Baten, Emiel Blom, Eveline Gillerot, Yves[UCL] Weigel, Johannes F. W. Krueger, Gabriele Hiort, Olaf Seemann, Petra Mundlos, Stefan (2010) American Journal of Human Genetics — Vol. 86, no. 3, p. 434-9 (2010)
    • Journal article
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    Hannes, F. D.[UCL] Sharp, A. J. Mefford, H. C. de Ravel, Thomy[UCL] Ruivenkamp, C. A. Breuning, M. H. Fryns, J-P[UCL] Devriendt, Koenraad[UCL] Van Buggenhout, Griet[UCL] Vogels, A.[UCL] Stewart, H. Hennekam, R. C.[UCL] Cooper, G. M. Regan, R. Knight, S. J. L. Eichler, E. E. Vermeesch, J. R.[UCL] (2009) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 46, no. 4, p. 223-232 (2009)
    • Journal article
    Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Zweier, Christiane Peippo, Maarit M. Hoyer, Juliane Sousa, Sergio Bottani, Armand Clayton-Smith, Jill Reardon, William Saraiva, Jorge Cabral, Alexandra Goehring, Ina Devriendt, Koen de Ravel, Thomy Bijlsma, Emilia K. Hennekam, Raoul C. M. Orrico, Alfredo Cohen, Monika Dreweke, Alexander Reis, Andre Nuernberg, Peter Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 5, p. 994-1001 (2007)
    • Journal article
    Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
    Vanakker, Olivier Vilain, Catheline Janssens, Katrien Van der Aa, Nathalie Smits, Guillaume Bandelier, Claude[UCL] Blaumeiser, Bettina Bulk, Saskia Caberg, Jean-Hubert De Leener, Anne De Rademaeker, Marjan de Ravel, Thomy Desir, Julie Destree, Anne Dheedene, Annelies Gaillez, Stéphane Grisart, Bernard Hellin, Ann-Cécile Janssens, Sandra Keymolen, Kathelijn Menten, Björn Pichon, Bruno Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, Sonia Staessens, Catherine Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris R. Kooy, Frank Sznajer, Yves[UCL] Devriendt, Koen (2014) European Journal of Medical Genetics — Vol. 57, no. 4, p. 151-156 (2014)
    • Journal article
    Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations
    Denayer, Ellen[UCL] Devriendt, Koen[UCL] de Ravel, Thomy[UCL] Van Buggenhout, Griet[UCL] Smeets, Eric[UCL] Francois, Inge[UCL] Sznajer, Yves Craen, Margarita Leventopoulos, George Mutesa, Leon Vandecasseye, Willy[UCL] Massa, Guy Kayserili, Hulya Sciot, Raf[UCL] Fryns, Jean-Pierre[UCL] Legius, Eric[UCL] (2010) Genes, Chromosomes & Cancer — Vol. 49, no. 3, p. 242-252 (2010)