Arama Sonuçları - Neil Stoodley

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Sonuçları Daraltın
  1. 1
    Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

    Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome Yazar: Irene A. Aligianis, Neil V. Morgan, Marina Mione, Colin A. Johnson, Elisabeth Rosser, Raoul C. M. Hennekam, Gill Adams, Richard C. Trembath, Daniela T. Pilz, Neil Stoodley, Anthony T. Moore, Steve Wilson, Eamonn R. Maher

    Baskı/Yayın Bilgisi 2006
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  2. 2
    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Yazar: Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz

    Baskı/Yayın Bilgisi 2013
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  3. 3
    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

    Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients Yazar: Richard J. Leventer, Anna Jansen, Daniela T. Pilz, Neil Stoodley, Carla Marini, François Dubeau, J. Y. Malone, Lex A. Mitchell, Simone Mandelstam, Ingrid E. Scheffer, Samuel F. Berkovic, Frédérick Andermann, Eva Andermann, Renzo Guerrini, William B. Dobyns

    Baskı/Yayın Bilgisi 2010
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  4. 4
    Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

    Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia Yazar: Mohammad Reza Abdollahi, Ewan E. Morrison, Tamara Sirey, Zoltán Molnár, Bruce E. Hayward, Ian Carr, Kelly Springell, C. Geoff Woods, Mushtaq Ahmed, Louise Hattingh, Peter Corry, Daniela T. Pilz, Neil Stoodley, Yanick J. Crow, Graham R. Taylor, David T. Bonthron, Eamonn Sheridan

    Baskı/Yayın Bilgisi 2009
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  5. 5
    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation Yazar: Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn, Elaine H. Zackai, Peter M. Bingham, Kevin Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean‐Pierre Lin, David R. Lynch, Shehla Mohammed, R. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc Tischkowitz, Neil Stoodley, Richard J. Leventer, Daniela T. Pilz, William B. Dobyns

    Baskı/Yayın Bilgisi 2006
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  6. 6
    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria Yazar: Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz

    Baskı/Yayın Bilgisi 2017
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