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Results: 1-11 |
Results: 11
Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation
Authors: Mullner-Eidenbock, A Moser, E Frisch, H Read, AP
Citation: A. Mullner-eidenbock et al., Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation, BR J OPHTH, 85(11), 2001, pp. 1384-1386
Elastin: mutational spectrum in supravalvular aortic stenosis
Authors: Metcalfe, K Rucka, AK Smoot, L Hofstadler, G Tuzler, G McKeown, P Siu, V Rauch, A Dean, J Dennis, N Ellis, I Reardon, W Cytrynbaum, C Osborne, L Yates, JR Read, AP Donnai, D Tassabehji, M
Citation: K. Metcalfe et al., Elastin: mutational spectrum in supravalvular aortic stenosis, EUR J HUM G, 8(12), 2000, pp. 955-963
Hereditary deafness: lessons for developmental studies and genetic diagnosis
Authors: Read, AP
Citation: Ap. Read, Hereditary deafness: lessons for developmental studies and genetic diagnosis, EUR J PED, 159, 2000, pp. S232-S235
Waardenburg syndrome
Authors: Read, AP
Citation: Ap. Read, Waardenburg syndrome, ADV OTO-RH, 56, 2000, pp. 32-38
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis
Authors: Toomes, C James, J Wood, AJ Wu, CL McCormick, D Lench, N Hewitt, C Moynihan, L Roberts, E Woods, CG Markham, A Wong, M Widmer, R Ghaffar, KA Pemberton, M Hussein, IR Temtamy, SA Davies, R Read, AP Sloan, P Dixon, MJ Thakker, NS
Citation: C. Toomes et al., Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis, NAT GENET, 23(4), 1999, pp. 421-424
DNA studies underestimate the major role of CDKN2A inactivation in oral and oropharyngeal squamous cell carcinomas
Authors: Wu, CL Roz, L McKown, S Sloan, P Read, AP Holland, S Porter, S Scully, C Paterson, L Tavassoli, M Thakker, N
Citation: Cl. Wu et al., DNA studies underestimate the major role of CDKN2A inactivation in oral and oropharyngeal squamous cell carcinomas, GENE CHROM, 25(1), 1999, pp. 16-25
A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome
Authors: Tassabehji, M Carrette, M Wilmot, C Donnai, D Read, AP Metcalfe, K
Citation: M. Tassabehji et al., A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome, EUR J HUM G, 7(7), 1999, pp. 737-747
A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies
Authors: Bondurand, N Kuhlbrodt, K Pingault, V Enderich, J Sajus, M Tommerup, N Warburg, M Hennekam, RCM Read, AP Wegner, M Goossens, N
Citation: N. Bondurand et al., A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome:SOX10 dysfunction causes different neurocristopathies, HUM MOL GEN, 8(9), 1999, pp. 1785-1789
A complete physical contig and partial transcript map of the Williams syndrome critical region
Authors: Hockenhull, EL Carette, MJ Metcalfe, K Donnai, D Read, AP Tassabehji, M
Citation: El. Hockenhull et al., A complete physical contig and partial transcript map of the Williams syndrome critical region, GENOMICS, 58(2), 1999, pp. 138-145
Novel mutations in the 1 alpha-hydroxylase (P450cl) gene in three familieswith pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages
Authors: Smith, SJ Rucka, AK Berry, JL Davies, M Mylchreest, S Paterson, CR Heath, DA Tassabehji, M Read, AP Mee, AP Mawer, EB
Citation: Sj. Smith et al., Novel mutations in the 1 alpha-hydroxylase (P450cl) gene in three familieswith pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages, J BONE MIN, 14(5), 1999, pp. 730-739
Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
Authors: Tassabehji, M Metcalfe, K Karmiloff-Smith, A Carette, MJ Grant, J Dennis, N Reardon, W Splitt, M Read, AP Donnai, D
Citation: M. Tassabehji et al., Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes, AM J HU GEN, 64(1), 1999, pp. 118-125
Risultati: 1-11 |