High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

Por Veltman, Joris A., Schoenmakers, Eric F. P. M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, van Kessel, Ad Geurts
Publicado em 2002

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Por Stevens, Servi J. C., van Essen, Anthonie J., van Ravenswaaij, Conny M. A., Elias, Abdallah F., Haven, Jaclyn A., Lelieveld, Stefan H., Pfundt, Rolph, Nillesen, Willy M., Yntema, Helger G., van Roozendaal, Kees, Stegmann, Alexander P., Gilissen, Christian, Brunner, Han G.
Publicado no Genome Med (2016)

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Por Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste, Dobyns, William B, Pilz, Daniela T
Publicado no Eur J Hum Genet (2015)