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Results: 1-7 |
Results: 7
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
Authors: Bespalova, IN Van Camp, G Bom, SJH Brown, DJ Cryns, K DeWan, AT Erson, AE Flothmann, K Kunst, HPM Kurnool, P Sivakumaran, TA Cremers, CWRJ Leal, SM Burmeister, M Lesperance, MM
Citation: In. Bespalova et al., Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss, HUM MOL GEN, 10(22), 2001, pp. 2501-2508
Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH
Authors: Bom, SJH De Leenheer, EMR Lemaire, FX Kemperman, MH Verhagen, WIM Marres, HAM Kunst, HPM Ensink, RJH Bosman, AJ Van Camp, G Cremers, FPM Huygen, PLM Cremers, CWRJ
Citation: Sjh. Bom et al., Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH, ARCH OTOLAR, 127(9), 2001, pp. 1045-1048
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation
Authors: Fransen, E Verstreken, M Bom, SJH Lemaire, F Kemperman, MH De Kok, YJM Wuyts, FL Verhagen, WIM Huygen, PLM McGuirt, WT Smith, RJH Van Maldergem, L Declau, F Cremers, CWRJ Van de Heyning, PH Cremers, FPM Van Camp, G
Citation: E. Fransen et al., A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation, J MED GENET, 38(1), 2001, pp. 61-64
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9)
Authors: Verhagen, WIM Bom, SJH Huygen, PLM Fransen, E Van Camp, G Cremers, CWRJ
Citation: Wim. Verhagen et al., Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9), ARCH NEUROL, 57(7), 2000, pp. 1045-1047
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
Authors: de Kok, YJM Bom, SJH Brunt, TM Kemperman, MH van Beusekom, E van der Velde-Visser, SD Robertson, NG Morton, CC Huygen, PLM Verhagen, WIM Brunner, HG Cremers, CWRJ Cremers, FPM
Citation: Yjm. De Kok et al., A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects, HUM MOL GEN, 8(2), 1999, pp. 361-366
Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes
Authors: Bom, SJH Kunst, HPM Huygen, PLM Cremers, FPM Cremers, CWRJ
Citation: Sjh. Bom et al., Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes, BR J AUDIOL, 33(5), 1999, pp. 335-348
Progressive cochleovestibular impairment caused by a point mutation in theCOCH gene at DFNA9
Authors: Bom, SJH Kemperman, MH De Kok, YJM Huygen, PLM Verhagen, WIM Cremers, FPM Cremers, CWRJ
Citation: Sjh. Bom et al., Progressive cochleovestibular impairment caused by a point mutation in theCOCH gene at DFNA9, LARYNGOSCOP, 109(9), 1999, pp. 1525-1530
Risultati: 1-7 |