Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T., Sheridan, Eamonn
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Smith, Miriam J., Wallace, Andrew J., Bowers, Naomi L., Rustad, Cecilie F., Woods, C. Geoff, Leschziner, Guy D., Ferner, Rosalie E., Evans, D. Gareth R.
Published in Neurogenetics (01.05.2012)
Published in Neurogenetics (01.05.2012)
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Published in Intensive care medicine (01.05.2019)
Published in Intensive care medicine (01.05.2019)
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A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus
Hepburn, Lucy, Prajsnar, Tomasz K., Klapholz, Catherine, Moreno, Pablo, Loynes, Catherine A., Ogryzko, Nikolay V., Brown, Karen, Schiebler, Mark, Hegyi, Krisztina, Antrobus, Robin, Hammond, Katherine L., Connolly, John, Ochoa, Bernardo, Bryant, Clare, Otto, Michael, Surewaard, Bas, Seneviratne, Suranjith L., Grogono, Dorothy M., Cachat, Julien, Ny, Tor, Kaser, Arthur, Török, M. Estée, Peacock, Sharon J., Holden, Matthew, Blundell, Tom, Wang, Lihui, Ligoxygakis, Petros, Minichiello, Liliana, Woods, C. Geoff, Foster, Simon J., Renshaw, Stephen A., Floto, R. Andres
Published in Science (American Association for the Advancement of Science) (31.10.2014)
Published in Science (American Association for the Advancement of Science) (31.10.2014)
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Mutations in LCA5 , encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Mohamed, Moin D, Wolfrum, Uwe, Kersten, Ferry F J, Rashid, Yasmin, Arts, Heleen H, van Beersum, Sylvia E C, Ueffing, Marius, Boldt, Karsten, Lopez, Irma, Towns, Katherine V, Woods, C Geoff, McKibbin, Martin, Dharmaraj, Sharola, van Wijk, Erwin, Williams, Grange A, Maumenee, Irene H, Inglehearn, Chris F, Nagel-Wolfrum, Kerstin, Veltman, Joris A, Beer, Monika, Gosens, Ilse, Springell, Kelly, Roepman, Ronald, Ivings, Lenka, Strom, Tim M, Zonneveld, Marijke N, Koenekoop, Robert K, Sedmak, Tina, Jafri, Hussain, van der Zwaag, Bert, Cheetham, Michael E, Cremers, Frans P M, den Hollander, Anneke I
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Mutation of the Variant [alpha]-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
Abdollahi, Mohammad R, Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E, Carr, Ian M, Springell, Kelly, Woods, C Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T, Stoodley, Neil, Crow, Yanick, Taylor, Graham R, Bonthron, David T, Sheridan, Eamonn
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus
Hepburn, Lucy, Prajsnar, Tomasz K, Klapholz, Catherine, Moreno, Pablo, Loynes, Catherine A, Ogryzko, Nikolay V, Brown, Karen, Schiebler, Mark, Hegyi, Krisztina, Antrobus, Robin, Hammond, Katherine L, Connolly, John, Ochoa, Bernardo, Bryant, Clare, Otto, Michael, Surewaard, Bas, Seneviratne, Suranjith L, Grogono, Dorothy M, Cachat, Julien, Ny, Tor, Kaser, Arthur, Török, M Estée, Peacock, Sharon J, Holden, Matthew, Blundell, Tom, Wang, Lihui, Ligoxygakis, Petros, Minichiello, Liliana, Woods, C Geoff, Foster, Simon J, Renshaw, Stephen A, Floto, R Andres
Published in Science (American Association for the Advancement of Science) (31.10.2014)
Published in Science (American Association for the Advancement of Science) (31.10.2014)
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Journal Article
Micro syndrome in Muslim Pakistan children
Ainsworth, John R, Morton, Jenny E, Good, Peter, Woods, C.Geoff, George, Nicolas D.L, Shield, Julian P, Bradbury, John, Henderson, M.John, Chhina, Jas
Published in Ophthalmology (Rochester, Minn.) (01.03.2001)
Published in Ophthalmology (Rochester, Minn.) (01.03.2001)
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