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Results: 1-8 |
Results: 8
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
Three novel mutations of the proto-oncogene KIT cause human piebaldism
Authors: Syrris, P Malik, NM Murday, VA Patton, MA Carter, ND Hughes, HE Metcalfe, K
Citation: P. Syrris et al., Three novel mutations of the proto-oncogene KIT cause human piebaldism, AM J MED G, 95(1), 2000, pp. 79-81
Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling
Authors: Liede, A Metcalfe, K Hanna, D Hoodfar, E Snyder, C Durham, C Lynch, HT Narod, SA
Citation: A. Liede et al., Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling, AM J HU GEN, 67(6), 2000, pp. 1494-1504
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
EYA4, a novel vertebrate gene related to Drosophila eyes absent
Authors: Borsani, G DeGrandi, A Ballabio, A Bulfone, A Bernard, L Banfi, S Gattuso, C Mariani, M Dixon, M Donnai, D Metcalfe, K Winter, R Robertson, M Axton, R Brown, A van Heyningen, V Hanson, I
Citation: G. Borsani et al., EYA4, a novel vertebrate gene related to Drosophila eyes absent, HUM MOL GEN, 8(1), 1999, pp. 11-23
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
Williams syndrome: an update on clinical and molecular aspects
Authors: Metcalfe, K
Citation: K. Metcalfe, Williams syndrome: an update on clinical and molecular aspects, ARCH DIS CH, 81(3), 1999, pp. 198-200
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: 1-8 |