Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings

Autor: Mueller, R.F ^*, Nehammer, A, Middleton, A, Houseman, M, Taylor, G.R, Bitner-Glindzciz, M, Van Camp, G, Parker, M, Young, I.D, Davis, A, Newton, V.E, Lench, N.J

Publikováno v: In International Journal of Pediatric Otorhinolaryngology 1999 50(1):3-13

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

Autor: Scott, D.A., Kraft, M.L., Carmi, R., Ramesh, A., Elbedour, K., Yairi, Y., Srikumari Srisailpathy, C.R., Rosengren, S.S., Markham, A.F., Mueller, R.F., Lench, N.J., Van Camp, Guy, Smith, R.J.H., Sheffield, V.C.

Publikováno v: Human mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6c8d7869a5f4eb68cafe7af9f9bb88
https://doi.org/10.1002/(sici)1098-1004(1998)11:5<387::aid-humu6>3.3.co

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

Autor: Nguyen, T.V., Andresen, B.S., Corydon, T.J., Ghisla, S., Abd-El Razik, N., Mohsen, A.W., Cederbaum, S.D., Roe, D.S., Roe, C.R., Lench, N.J., Vockley, J.

Publikováno v: Nguyen, T V, Andresen, B S, Corydon, T J, Ghisla, S, Abd-El Razik, N, Mohsen, A W, Cederbaum, S D, Roe, D S, Roe, C R, Lench, N J & Vockley, J 2002, ' Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans ' Mol. Genet. Metab., no. 77, pp. 68-79 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::cdc2bb3128225b905f3bf8b8d0bac654
https://pure.au.dk/portal/da/publications/identification-of-isobutyrylcoa-dehydrogenase-and-its-deficiency-in-humans(f0507250-b33a-11da-bee9-02004c4f4f50).html

Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease.

Autor: Negoro, K., McGovern, D.P.B., Kinouchi, Y., Takahashi, S., Lench, N.J., Shimosegawa, T., Carey, A., Cardon, L.R., Jewell, D.P., van Heel, D.A.

Publikováno v: Gut; Apr2003, Vol. 52 Issue 4, p541, 6p, 1 Black and White Photograph, 6 Charts

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