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Table of contents of journal:

Results: 1-25/39
General review of medical genetics
Authors: Fukushima, Y
Citation: Y. Fukushima, General review of medical genetics, ADV OTO-RH, 56, 2000, pp. 1-10
Genetic heterogeneity of Usher syndrome
Authors: Kimberling, WJ Orten, D Pieke-Dahl, S
Citation: Wj. Kimberling et al., Genetic heterogeneity of Usher syndrome, ADV OTO-RH, 56, 2000, pp. 11-18
Alport syndrome
Authors: Tachibana, M
Citation: M. Tachibana, Alport syndrome, ADV OTO-RH, 56, 2000, pp. 19-31
Waardenburg syndrome
Authors: Read, AP
Citation: Ap. Read, Waardenburg syndrome, ADV OTO-RH, 56, 2000, pp. 32-38
Branchio-Oto-Renal syndrome
Authors: Kalatzis, V Petit, C
Citation: V. Kalatzis et C. Petit, Branchio-Oto-Renal syndrome, ADV OTO-RH, 56, 2000, pp. 39-44
The Jervell and Lange-Nielsen syndrome
Authors: Bitner-Glindzicz, M Tranebjoerg, L
Citation: M. Bitner-glindzicz et L. Tranebjoerg, The Jervell and Lange-Nielsen syndrome, ADV OTO-RH, 56, 2000, pp. 45-52
Treacher Collins syndrome
Authors: Marsh, KL Dixon, MJ
Citation: Kl. Marsh et Mj. Dixon, Treacher Collins syndrome, ADV OTO-RH, 56, 2000, pp. 53-59
Non-syndromic dominant DFNA1
Authors: Lynch, ED Leon, PE
Citation: Ed. Lynch et Pe. Leon, Non-syndromic dominant DFNA1, ADV OTO-RH, 56, 2000, pp. 60-67
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
DFNA3
Authors: Denoyelle, F Weil, D Levilliers, J Petit, C
Citation: F. Denoyelle et al., DFNA3, ADV OTO-RH, 56, 2000, pp. 78-83
Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13
Authors: McGuirt, WT Lesperance, MM Wilcox, ER Chen, AH Van Camp, G Smith, RJH
Citation: Wt. Mcguirt et al., Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13, ADV OTO-RH, 56, 2000, pp. 84-96
DFNA7
Authors: Tranebjoerg, L Elverland, HH Fagerheim, T
Citation: L. Tranebjoerg et al., DFNA7, ADV OTO-RH, 56, 2000, pp. 97-100
Mutations in COCH (formerly Coch5b2) cause DFNA9
Authors: Eavey, RD Manolis, EN Lubianca, J Merchant, S Seidman, JG Seidman, C
Citation: Rd. Eavey et al., Mutations in COCH (formerly Coch5b2) cause DFNA9, ADV OTO-RH, 56, 2000, pp. 101-102
Sensorineural hearing impairment, non-syndromic, dominant DFNA11
Authors: Tamagawa, Y Kitamura, K Ishida, T Nishizawa, M Liu, XZ Walsh, J Steel, KP Brown, SDM
Citation: Y. Tamagawa et al., Sensorineural hearing impairment, non-syndromic, dominant DFNA11, ADV OTO-RH, 56, 2000, pp. 103-106
DFNA15
Authors: Avraham, KB
Citation: Kb. Avraham, DFNA15, ADV OTO-RH, 56, 2000, pp. 107-115
Mapping of the DFNB1 locus
Authors: Mueller, RF Lench, NJ
Citation: Rf. Mueller et Nj. Lench, Mapping of the DFNB1 locus, ADV OTO-RH, 56, 2000, pp. 116-123
Sensorineural hearing impairment: Non-syndromic, recessive DFNB2
Authors: Liu, XZ Brown, SDM
Citation: Xz. Liu et Sdm. Brown, Sensorineural hearing impairment: Non-syndromic, recessive DFNB2, ADV OTO-RH, 56, 2000, pp. 124-130
DFNB3 families and shaker-2 mice: Mutations in an unconventional myosin, MYO15
Authors: Friedman, TB Hinnant, JT Fridell, RA Wilcox, ER Raphael, Y Camper, SA
Citation: Tb. Friedman et al., DFNB3 families and shaker-2 mice: Mutations in an unconventional myosin, MYO15, ADV OTO-RH, 56, 2000, pp. 131-144
The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4
Authors: Wilcox, ER Everett, LA Li, XYC Lalwani, AK Green, ED
Citation: Er. Wilcox et al., The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4, ADV OTO-RH, 56, 2000, pp. 145-151
Sensorineural hearing impairment, non-syndromic: DFNB5, 6,7 - Homozygositymapping to localize genes causing autosomal recessive non-syndromic hearing loss
Authors: Fukushima, K Ueki, Y Smith, RJH
Citation: K. Fukushima et al., Sensorineural hearing impairment, non-syndromic: DFNB5, 6,7 - Homozygositymapping to localize genes causing autosomal recessive non-syndromic hearing loss, ADV OTO-RH, 56, 2000, pp. 152-157
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3
Authors: Scott, HS Antonarakis, SE Mittaz, L Lalioti, MD Younus, F Mohyuddin, A Mehdi, SQ Gal, A
Citation: Hs. Scott et al., Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3, ADV OTO-RH, 56, 2000, pp. 158-163
DFNB9 and DFNB12
Authors: Yasunaga, S Grati, M Petit, C
Citation: S. Yasunaga et al., DFNB9 and DFNB12, ADV OTO-RH, 56, 2000, pp. 164-167
DFNB11
Authors: Scott, DA Sheffield, VC
Citation: Da. Scott et Vc. Sheffield, DFNB11, ADV OTO-RH, 56, 2000, pp. 168-170
DFNB15: Autosomal recessive non-syndromic hearing loss gene chromosome 3q,19p or digenic recessive inheritance?
Authors: Chen, AH Fukushima, K McGuirt, WT Smith, RJH
Citation: Ah. Chen et al., DFNB15: Autosomal recessive non-syndromic hearing loss gene chromosome 3q,19p or digenic recessive inheritance?, ADV OTO-RH, 56, 2000, pp. 171-175
X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome)
Authors: Tranebjaerg, L Jensen, PKA van Ghelue, M
Citation: L. Tranebjaerg et al., X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome), ADV OTO-RH, 56, 2000, pp. 176-180
Risultati: 1-25 | 26-39