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Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
Tyson J, Tranebjaerg L, McEntagart M, Larsen LA, Christiansen M, Whiteford ML, Bathen J, Aslaksen B, Sørland SJ, Lund O, Pembrey ME, Malcolm S, Bitner-Glindzicz M. Tyson J, et al. Among authors: malcolm s. Hum Genet. 2000 Nov;107(5):499-503. doi: 10.1007/s004390000402. Hum Genet. 2000. PMID: 11140949
Mapping of DFN2 to Xq22.
Tyson J, Bellman S, Newton V, Simpson P, Malcolm S, Pembrey ME, Bitner-Glindzicz M. Tyson J, et al. Among authors: malcolm s. Hum Mol Genet. 1996 Dec;5(12):2055-60. doi: 10.1093/hmg/5.12.2055. Hum Mol Genet. 1996. PMID: 8968763
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.
Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sørland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. Tyson J, et al. Among authors: malcolm s. Hum Mol Genet. 1997 Nov;6(12):2179-85. doi: 10.1093/hmg/6.12.2179. Hum Mol Genet. 1997. PMID: 9328483
The major cystic fibrosis mutation in a British population.
McMahon CJ, Genet SA, Middleton-Price HR, Rutland P, Pembrey ME, Malcolm S. McMahon CJ, et al. Among authors: malcolm s. Hum Genet. 1990 Dec;86(2):236-7. doi: 10.1007/BF00197712. Hum Genet. 1990. PMID: 2265837
Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
Chan CT, Clayton-Smith J, Cheng XJ, Buxton J, Webb T, Pembrey ME, Malcolm S. Chan CT, et al. Among authors: malcolm s. J Med Genet. 1993 Nov;30(11):895-902. doi: 10.1136/jmg.30.11.895. J Med Genet. 1993. PMID: 7905534 Free PMC article.
330 results