Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain
Jackson, Andrew P., Eastwood, Helen, Bell, Sandra M., Adu, Jimi, Toomes, Carmel, Carr, Ian M., Roberts, Emma, Hampshire, Daniel J., Crow, Yanick J., Mighell, Alan J., Karbani, Gulshan, Jafri, Hussain, Rashid, Yasmin, Mueller, Robert F., Markham, Alexander F., Woods, C. Geoffrey
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
Lainé, Sophie, Masmoudi, Saber, Hutchin, Tim P, Verpy, Elisabeth, Leibovici, Michel, Nouaille, Sylvie, Del Castillo, Ignacio, Blanchard, Stéphane, Petit, Christine, Popot, Jean-Luc, Moreno, Felipe, Mueller, Robert F, Zwaenepoel, Ingrid
Published in Nature genetics (01.11.2001)
Published in Nature genetics (01.11.2001)
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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
JACOBS, Howard T, HUTCHIN, Timothy P, ZELANTE, Leopoldo, GASPARINI, Paolo, PYYKKÖ, Ilmari, SHAH, Zahid H, ZEVIANI, Massimo, MUELLER, Robert F, KÄPPI, Timo, GILLIES, Greta, MINKKINEN, Kia, WALKER, John, THOMPSON, Karen, ROVIO, Anja T, CARELLA, Massimo, MELCHIONDA, Salvatore
Published in European journal of human genetics : EJHG (01.01.2005)
Published in European journal of human genetics : EJHG (01.01.2005)
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Journal Article
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
Smith, Richard J.H, McGuirt, Wyman T, Prasad, Sai D, Griffith, Andrew J, Kunst, Henricus P.M, Green, Glenn E, Shpargel, Karl B, Runge, Christina, Huybrechts, Christy, Mueller, Robert F, Lynch, Eric, King, Mary-Claire, Brunner, Han G, Cremers, Cor W.R.J, Takanosu, Masamine, Li, Shi-Wu, Arita, Machiko, Mayne, Richard, Prockop, Darwin J, Camp, Guy Van
Published in Nature genetics (01.12.1999)
Published in Nature genetics (01.12.1999)
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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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Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
Keen, T Jeffrey, Hims, Matthew M, McKie, Arthur B, Moore, Anthony T, Doran, Rob M, Mackey, David A, Mansfield, David C, Mueller, Robert F, Bhattacharya, Shomi S, Bird, Alan C, Markham, Alexander F, Inglehearn, Chris F
Published in European journal of human genetics : EJHG (01.04.2002)
Published in European journal of human genetics : EJHG (01.04.2002)
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Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases
Morleo, Manuela, Pramparo, Tiziano, Perone, Lucia, Gregato, Giuliana, Caignec, Cedric Le, Mueller, Robert F., Ogata, Tsutomu, Raas-Rothschild, Annick, de Blois, Marie Christine, Wilson, Louise C., Zaidman, Gerald, Zuffardi, Orsetta, Ballabio, Andrea, Franco, Brunella
Published in American journal of medical genetics. Part A (30.08.2005)
Published in American journal of medical genetics. Part A (30.08.2005)
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A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
MORGAN, Neil V, GISSEN, Paul, TREMBATH, Richard C, MAHER, Eamonn R, JOHNSON, Colin A, SAGHIRA MALIK SHARIF, BAUMBER, Laura, SUTHERLAND, Joan, KELLY, Deirdre A, AMINU, Kingi, BENNETT, Christopher P, WOODS, C. Geoffrey, MUELLER, Robert F
Published in Human genetics (01.10.2002)
Published in Human genetics (01.10.2002)
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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
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation
Hutchin, T P, Lench, N J, Arbuzova, S, Markham, A F, Mueller, R F
Published in European journal of human genetics : EJHG (01.01.2001)
Published in European journal of human genetics : EJHG (01.01.2001)
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Journal Article
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction
Hutchin, T P, Navarro-Coy, N C, Van Camp, G, Tiranti, V, Zeviani, M, Schuelke, M, Jaksch, M, Newton, V, Mueller, R F
Published in European journal of human genetics : EJHG (01.05.2001)
Published in European journal of human genetics : EJHG (01.05.2001)
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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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Evaluation of a Protocol for Post-Mortem Examination of Stillbirths
Mueller, Robert F, Sybert, Virginia P, Johnson, Jennifer, Brown, Zane A, Chen, Wei-Jen
Published in The New England journal of medicine (08.09.1983)
Published in The New England journal of medicine (08.09.1983)
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