Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Kelsell, D. P, Dunlop, J, Stevens, H. P, Lench, N. J, Liang, J. N, Parry, G, Mueller, R. F, Leigh, I. M
Published in Nature (London) (01.05.1997)
Published in Nature (London) (01.05.1997)
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Journal Article
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
VAN LAER, L, COUCKE, P, FRANSEN, E, ROWLAND, J, CUCCI, R. A, SMITH, R. J. H, VAN CAMP, G, MUELLER, R. F, CAETHOVEN, G, FLOTHMANN, K, PRASAD, S. D, CHAMBERLIN, G. P, HOUSEMAN, M, TAYLOR, G. R, VAN DE HEYNING, C. M
Published in Journal of medical genetics (01.08.2001)
Published in Journal of medical genetics (01.08.2001)
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Journal Article
Attitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness
Middleton, Anna, Hewison, J., Mueller, R.F.
Published in American journal of human genetics (01.10.1998)
Published in American journal of human genetics (01.10.1998)
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Journal Article
A cross sectional study of renal involvement in tuberous sclerosis
Cook, J A, Oliver, K, Mueller, R F, Sampson, J
Published in Journal of medical genetics (01.06.1996)
Published in Journal of medical genetics (01.06.1996)
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Journal Article
A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidney
Belk, R A, Thomas, D F M, Mueller, R F, Godbole, P, Markham, A F, Weston, M J
Published in The Journal of urology (01.02.2002)
Published in The Journal of urology (01.02.2002)
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Journal Article
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
Scott, DA, Kraft, ML, Carmi, R, Ramesh, A, Elbedour, K, Yairi, Y, Srisailapathy, C. R. Srikumari, Rosengren, SS, Markham, AF, Mueller, RF, Lench, NJ, Van Camp, G, Smith, RJH, Sheffield, VC
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment
Hutchin, T P, Parker, M J, Young, I D, Davis, A C, Pulleyn, L J, Deeble, J, Lench, N J, Markham, A F, Mueller, R F
Published in Journal of medical genetics (01.09.2000)
Published in Journal of medical genetics (01.09.2000)
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Journal Article
A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34
Moynihan, Leanne, Jackson, Andrew P., Roberts, Emma, Karbani, Gulshan, Lewis, Ian, Corry, Peter, Turner, Gwen, Mueller, Robert F., Lench, Nicholas J., Woods, C. Geoffrey
Published in American journal of human genetics (01.02.2000)
Published in American journal of human genetics (01.02.2000)
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Journal Article
Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter
Jackson, Andrew P., McHale, Duncan P., Campbell, David A., Jafri, Hussain, Rashid, Yasmin, Mannan, Jovaria, Karbani, Gulshan, Corry, Peter, Levene, Malcolm I., Mueller, Robert F., Markham, Alexander F., Lench, Nicholas J., Woods, C. Geoffrey
Published in American journal of human genetics (01.08.1998)
Published in American journal of human genetics (01.08.1998)
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Journal Article
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25
McHale, D.P., Mitchell, S., Bundey, S., Moynihan, L., Campbell, D.A., Woods, C.G., Lench, N.J., Mueller, R.F., Markham, A.F.
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Journal Article
Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings
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
Published in International journal of pediatric otorhinolaryngology (15.10.1999)
Published in International journal of pediatric otorhinolaryngology (15.10.1999)
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Journal Article
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK
Blaydon, DC, Mueller, RF, Hutchin, TP, Leroy, BP, Bhattacharya, SS, Bird, AC, Malcolm, S, Bitner-Glindzicz, M
Published in Clinical genetics (01.04.2003)
Published in Clinical genetics (01.04.2003)
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Journal Article
A Mutation (2314delG) in the Usher Syndrome Type IIA Gene: High Prevalence and Phenotypic Variation
Liu, Xue-Zhong, Hope, Carolyn, Liang, Chuan Yu, Zou, Jiu Mu, Xu, Li Rong, Cole, T., Mueller, Robert F., Bundey, Sarah, Nance, Walter, Steel, Karen P., Brown, Steve D.M.
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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Journal Article
A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom
KNIGHT, S. J. L, RITCHIE, R. J, DAVIES, K. E, CHAKRABARTI, L, CROSS, G, TAYLOR, G. R, MUELLER, R. F, HURST, J, PATERSON, J, YATES, J. R. W, DOW, D. J
Published in American journal of human genetics (01.05.1996)
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Published in American journal of human genetics (01.05.1996)
Journal Article
Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene
Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine
Published in Human molecular genetics (01.11.1997)
Published in Human molecular genetics (01.11.1997)
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