檢索結果 - Colin A. Johnson
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Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt s... 由 Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson
出版 2013Artigo -
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The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway 由 Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, C.F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger
出版 2015Artigo -
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IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment 由 Thibaut Eguether, Jovenal T. San Agustin, Brian T. Keady, Julie A. Jonassen, Yinwen Liang, Richard Francis, Kimimasa Tobita, Colin A. Johnson, Zakia A. Abdelhamed, Cecilia Lo, Gregory J. Pazour
出版 2014Artigo -
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Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis 由 Su Kyoung Kim, Asako Shindo, Tae Joo Park, Edwin C. Oh, Srimoyee Ghosh, Ryan S. Gray, Richard A. Lewis, Colin A. Johnson, Tania Attié‐Bitach, Nicholas Katsanis, John B. Wallingford
出版 2010Artigo -
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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies 由 Katarzyna Szymańska, Ian Berry, Clare V. Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A. Johnson
出版 2012Artigo -
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A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8) 由 Neil V. Morgan, Shanaz Pasha, Colin A. Johnson, John R. Ainsworth, Robin A.J. Eady, Ban B. Dawood, C McKeown, Richard C. Trembath, Jonathan T. Wilde, Steve P. Watson, Eamonn R. Maher
出版 2005Artigo
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