ACNP - Italian Periodicals Catalogue

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Results: 1-7 |

Results: 7

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F (vol 10, pg 1709, 2001)

Authors: Alagramam, KN Yuan, HJ Kuehn, MH Murcia, CL Wayne, S Srisailpathy, CRS Lowry, RB Knaus, R Van Laer, L Bernier, FP Schwartz, S Lee, C Morton, CC Mullins, RF Ramesh, A Van Camp, G Hageman, GS Woychik, RP Smith, RJH

Citation: Kn. Alagramam et al., Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F (vol 10, pg 1709, 2001), HUM MOL GEN, 10(22), 2001, pp. 2603-2603

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Citation: Kn. Alagramam et al., Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F, HUM MOL GEN, 10(16), 2001, pp. 1709-1718

A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment

Authors: Van Laer, L Coucke, P Mueller, RF Caethoven, G Flothmann, K Prasad, SD Chamberlin, GP Houseman, M Taylor, GR Van de Heyning, CM Fransen, E Rowland, J Cucci, RA Smith, RJH Van Camp, G

Citation: L. Van Laer et al., A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment, J MED GENET, 38(8), 2001, pp. 515-518

DFNA 2, 5, 8, 12

Authors: Van Camp, G Coucke, PJ Van Hauwe, P Van Laer, L Verhoeven, K Wuyts, F Smith, RJH

Citation: G. Van Camp et al., DFNA 2, 5, 8, 12, ADV OTO-RH, 56, 2000, pp. 68-77

Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene

Authors: Verhoeven, K Ensink, RJH Tiranti, V Huygen, PLM Johnson, DF Schatteman, I Van Laer, L Verstreken, M Van de Heyning, P Fischel-Ghodsian, N Zeviani, M Cremers, CWRJ Willems, PJ Van Camp, G

Citation: K. Verhoeven et al., Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene, EUR J HUM G, 7(1), 1999, pp. 45-51

Autosomal recessive nonsyndromic hearing loss

Authors: Sundstrom, RA Van Laer, L Van Camp, G Smith, RJH

Citation: Ra. Sundstrom et al., Autosomal recessive nonsyndromic hearing loss, AM J MED G, 89(3), 1999, pp. 123-129

Autosomal dominant nonsyndromic hearing impairment

Authors: Van Laer, L McGuirt, WT Yang, T Smith, RJH Van Camp, G

Citation: L. Van Laer et al., Autosomal dominant nonsyndromic hearing impairment, AM J MED G, 89(3), 1999, pp. 167-174

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