檢索結果 - Kelly Springell

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  1. 1
    The molecular landscape of ASPM mutations in primary microcephaly

    The molecular landscape of ASPM mutations in primary microcephaly 由 Adeline K. Nicholas, Eric A. Swanson, James J. Cox, Gulshan Karbani, Sabreena Malik, Kelly Springell, Daniel J. Hampshire, M Ahmed, Jacquelyn Bond, Daniela Benedetto, Marco Fichera, Corrado Romano, William B. Dobyns, C. Geoffrey Woods

    出版 2008
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  2. 2
    Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

    Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome 由 C. Geoffrey Woods, Sigmar Stricker, Petra Seemann, Rowena Stern, James J. Cox, E. Sherridan, Emma Roberts, Kelly Springell, Simon Scott, Gulshan Karbani, Saghira Malik Sharif, Carmel Toomes, Jacquelyn Bond, Dheeraj Kumar, Lihadh Al‐Gazali, Stefan Mundlos

    出版 2006
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  3. 3
    Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

    Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease 由 C. Geoffrey Woods, James J. Cox, Kelly Springell, Daniel J. Hampshire, Moin Mohamed, Martin McKibbin, Rowena Stern, F. Lucy Raymond, Richard Sandford, Saghira Malik Sharif, Gulshan Karbani, Mustaq Ahmed, Jacquelyn Bond, David Clayton, Chris F. Inglehearn

    出版 2006
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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 由 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

    出版 2009
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  5. 5
    Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

    Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size 由 Jacquelyn Bond, Sheila Scott, Daniel J. Hampshire, Kelly Springell, Peter Corry, Marc Abramowicz, Ganeshwaran H. Mochida, Raoul C. M. Hennekam, Eamonn R. Maher, Jean‐Pierre Fryns, Abdulrahman Alswaid, Hussain Jafri, Yasmin Abdul Rashid, Ammar F. Mubaidin, Christopher A. Walsh, Emma Roberts, C. Geoffrey Woods

    出版 2003
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  6. 6
    An SCN9A channelopathy causes congenital inability to experience pain

    An SCN9A channelopathy causes congenital inability to experience pain 由 James J. Cox, Frank Reimann, Adeline K. Nicholas, Gemma Thornton, Emma Roberts, Kelly Springell, Gulshan Karbani, Hussain Jafri, Jovaria Mannan, Yasmin Raashid, Lihadh Al‐Gazali, Henan Hamamy, Enza Maria Valente, Shaun Gorman, Richard Williams, Duncan P. McHale, John N. Wood, Fiona M. Gribble, C. Geoffrey Woods

    出版 2006
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  7. 7
    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis 由 Mehmet Bakırcıoğlu, Ofélia P. Carvalho, Maryam Khurshid, James J. Cox, Beyhan Tüysüz, Tanyeri Barak, Saliha Yılmaz, Ahmet Okay Çağlayan, Alp Di̇nçer, Adeline K. Nicholas, Oliver Quarrell, Kelly Springell, Gulshan Karbani, Saghira Malik, Caroline Gannon, Eamonn Sheridan, Moira Crosier, Steven Lisgo, Susan Lindsay, Kaya Bilgüvar, Fanni Gergely, Murat Günel, C. Geoffrey Woods

    出版 2011
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  8. 8
    Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

    Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice 由 David Parry, Carmel Toomes, L. Bida, Michael Danciger, Katherine V. Towns, Martin McKibbin, Samuel G. Jacobson, Clare V. Logan, Manir Ali, Jacquelyn Bond, Rebecca K. Chance, Steven Swendeman, Lauren L. Daniele, Kelly Springell, Matthew Adams, Colin A. Johnson, Adam Booth, Hussain Jafri, Yasmin Abdul Rashid, Eyal Banin, Tim M. Strom, Debora B. Farber, Dror Sharon, Carl Blobel, Edward N. Pugh, Eric A. Pierce, Chris F. Inglehearn

    出版 2009
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