A genotype-phenotype correlation for GJB2 (connexin 26) deafness
Cryns, K, Orzan, E, Murgia, A, Huygen, P L M, Moreno, F, del Castillo, I, Parker Chamberlin, G, Azaiez, H, Prasad, S, Cucci, R A, Leonardi, E, Snoeckx, R L, Govaerts, P J, Van de Heyning, P H, Van de Heyning, C M, Smith, R J H, Van Camp, G
Published in Journal of medical genetics (01.03.2004)
Published in Journal of medical genetics (01.03.2004)
Get full text
Journal Article
A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3
Snoeckx, R L, Kremer, H, Ensink, R J H, Flothmann, K, de Brouwer, A, Smith, R J H, Cremers, C W R J, Van Camp, G
Published in Journal of medical genetics (01.01.2004)
Published in Journal of medical genetics (01.01.2004)
Get full text
Journal Article
A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene
Van Camp, Guy, Snoeckx, Rikkert L., Hilgert, Nele, van den Ende, Jenneke, Fukuoka, Hisakumi, Wagatsuma, Michio, Suzuki, Hiroaki, Erica Smets, R.M., Vanhoenacker, Filip, Declau, Frank, Van De Heyning, Paul, Usami, Shin-ichi
Published in American journal of human genetics (01.09.2006)
Published in American journal of human genetics (01.09.2006)
Get full text
Journal Article
A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13
Ensink, R.J.H., Huygen, P.L.M., Snoeckx, R.L., Caethoven, G., Van Camp, G., Cremers, C.W.R.J.
Published in Clinical otolaryngology and allied sciences (01.08.2001)
Published in Clinical otolaryngology and allied sciences (01.08.2001)
Get full text
Journal Article
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Snoeckx, Rikkert L., Huygen, Patrick L.M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W.R.J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J.H., Van Camp, Guy
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
Get full text
Journal Article
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3
de Brouwer, Arjan P.M., Kunst, Hendrikus P.M., Krebsova, Alice, van Asseldonk, Karin, Reis, André, Snoeckx, Rik L., Van Camp, Guy, Cremers, Cor W.R.J., Cremers, Frans P.M., Kremer, Hannie
Published in American journal of medical genetics. Part A (15.08.2005)
Published in American journal of medical genetics. Part A (15.08.2005)
Get full text
Journal Article