نتائج بحث المؤلف :: APM

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Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans حسب Ranad Shaheen, Hanan E. Shamseldin, Catrina M. Loucks, Mohammed Zain Seidahmed, Shinu Ansari, M. I. Khalil, Nadya Al‐Yacoub, Erica E. Davis, Natalie Mola, Katarzyna Szymańska, Warren Herridge, Albert E. Chudley, Bernard N. Chodirker, Jeremy Schwartzentruber, Jacek Majewski, Nicholas Katsanis, Coralie Poizat, Colin A. Johnson, Jillian S. Parboosingh, Kym M. Boycott, A. Micheil Innes, Fowzan S. Alkuraya

منشور في 2013

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Artigo

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2

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes حسب Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymańska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David Parry, Stef J.F. Letteboer, Susanne Roosing, Matthew Adams, Sandra Bell, Jacquelyn Bond, J. William Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Gießl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed A. Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan E. Lamont, François Bernier, Chandree L. Beaulieu, Paul M. Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A. Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver E. Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby J. Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson

منشور في 2015

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Artigo

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3

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport حسب Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Céline Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J.F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter Scambler, Marius Ueffing, Hülya Kayserili, Deborah Krakow, Stephen M. King, Philip L. Beales, Lihadh Al‐Gazali, Carol Wicking, Valérie Cormier‐Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman, Saeed Al-Turki, Carl E. Anderson, Richard Anney, Dinu Antony, Jennifer L. Asimit, Muhammad Ayub, J. M. Barrett, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Chris Boustred, Gerome Breen, Marie‐Jo Brion, Andrew H. Brown, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, George Davey Smith, Aaron Day-Williams, Ian N.M. Day, Richard Durbin, Sarah Edkins, Peter Ellis, David A. Evans, I. Sadaf Farooqi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Daniel H. Geschwind, Celia M.T. Greenwood, Detelina Grozeva, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Steve E. Humphries, Matt Hurles, Pirro G. Hysi, David H. Jackson, Yalda Jamshidi, David Jewell, J. Janse Chris, J. F. Kaye, Thomas Keane, John P. Kemp, Karen L. Kennedy, Alastair Kent, Anja Kolb‐Kokocinski

منشور في 2015

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Artigo

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4

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport حسب Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Céline Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J.F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter Scambler, Marius Ueffing, Hülya Kayserili, Deborah Krakow, Stephen M. King, Saeed Al-Turki, Carl E. Anderson, Richard Anney, Dinu Antony, Jennifer L. Asimit, Muhammad Ayub, J. M. Barrett, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Chris Boustred, Gerome Breen, Marie‐Jo Brion, Andrew H. Brown, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, George Davey Smith, Aaron Day-Williams, Ian N.M. Day, Richard Durbin, Sarah Edkins, Peter Ellis, David A. Evans, I. Sadaf Farooqi, Ghazaleh Fatemifar, David A. Fitzpatrick, Paul Flicek, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Daniel H. Geschwind, Celia M.T. Greenwood, Detelina Grozeva, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Steve E. Humphries, Matt Hurles, Pirro G. Hysi, David Jackson, Yalda Jamshidi, David Jewell, J. Janse Chris, J. F. Kaye, Thomas Keane, John D. Kemp, Karen L. Kennedy, Alastair Kent, Anja Kolb‐Kokocinski, Geneviève Lachance, Cordelia Langford, Irene Lee, Rui Li, Yingrui Li, Liu Ryan, Jouko Lönnqvist

منشور في 2016

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Errata/Corrigenda

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