檢索結果 - Israel Amirav
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Mutation of <i>serine/threonine protein kinase 36</i> ( <i>STK36</i> ) causes primary ciliary dyskinesia with a central pair defect 由 Christine Edelbusch, Sandra Cindrić, Gerard W. Dougherty, Niki T. Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran
出版 2017Artigo -
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LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects 由 Amjad Horani, Thomas W. Ferkol, David Shoseyov, Mollie G. Wasserman, Yifat S. Oren, Batsheva Kerem, Israel Amirav, Malena Cohen‐Cymberknoh, Susan K. Dutcher, Steven L. Brody, Orly Elpeleg, Eitan Kerem
出版 2013Artigo -
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CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia 由 Amjad Horani, Steven L. Brody, Thomas W. Ferkol, David Shoseyov, Mollie G. Wasserman, Asaf Ta‐Shma, Kate S. Wilson, Philip V. Bayly, Israel Amirav, Malena Cohen‐Cymberknoh, Susan K. Dutcher, Orly Elpeleg, Eitan Kerem
出版 2013Artigo -
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Systematic Analysis of<i>CCNO</i>Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis 由 Israel Amirav, Julia Wallmeier, Niki T. Loges, Tabea Menchen, Petra Pennekamp, Huda Mussaffi, Revital Abitbul, Avraham Avital, Lea Bentur, Gerard W. Dougherty, Nael Elias, Moran Lavie, Heike Olbrich, Claudius Werner, Chris Kintner, Heymut Omran
出版 2016Artigo -
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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms 由 Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran
出版 2018Artigo -
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Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia 由 Malena Cohen‐Cymberknoh, Nir Weigert, Alex Gileles‐Hillel, Oded Breuer, Natalia Simanovsky, Mieke Boon, K. De Boeck, Angelo Barbato, Deborah Snijders, Mirella Collura, Ugo Pradal, Hannah Blau, Huda Mussaffi, Mareike Price, Lea Bentur, Michal Gur, Micha Aviram, Elie Picard, Michal Shteinberg, Galit Livnat, Joseph Rivlin, Nurith Hiller, David Shoseyov, Israel Amirav, Eitan Kerem
出版 2017Artigo -
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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects 由 Adrien Frommer, Rim Hjeij, Niki T. Loges, Christine Edelbusch, Charlotte Jahnke, Johanna Raidt, Claudius Werner, Julia Wallmeier, Jörg Große-Onnebrink, Heike Olbrich, Sandra Cindrić, Martine Jaspers, Mieke Boon, Yasin Memari, Richard Durbin, Anja Kolb‐Kokocinski, Sascha Sauer, June K. Marthin, Kim G. Nielsen, Israel Amirav, Nael Elias, Eitan Kerem, David Shoseyov, Karsten Häeffner, Heymut Omran
出版 2015Artigo -
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Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study 由 Florian S. Halbeisen, Myrofora Goutaki, Ben D. Spycher, Israel Amirav, Laura Behan, Mieke Boon, Claire Hogg, Carmen Casaulta, Suzanne Crowley, Eric G. Haarman, Bülent Karadağ, Cordula Koerner‐Rettberg, Michael R. Loebinger, Henryk Mazurek, Lucy Morgan, Kim G. Nielsen, Heymut Omran, Francesca Santamaria, Nicolaus Schwerk, Guillaume Thouvenin, Panayiotis K. Yiallouros, Jane S. Lucas, Philipp Latzin, Claudia E. Kuehni
出版 2018Artigo -
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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia 由 Mieke Boon, Julia Wallmeier, Lina Ma, Niki T. Loges, Martine Jaspers, Heike Olbrich, Gerard W. Dougherty, Johanna Raidt, Claudius Werner, Israel Amirav, Avigdor Hevroni, Revital Abitbul, Avraham Avital, Ruth Soferman, Marja W. Wessels, Christopher O’Callaghan, Eddie M.K. Chung, Andrew Rutman, Robert A. Hirst, Eduardo Moya, Hannah M. Mitchison, Sabine Van daele, K. De Boeck, Mark Jorissen, Chris Kintner, Harry Cuppens, Heymut Omran
出版 2014Artigo -
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The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results 由 Myrofora Goutaki, Elisabeth Maurer, Florian S. Halbeisen, Israel Amirav, Angelo Barbato, Laura Behan, Mieke Boon, Carmen Casaulta, Annick Clément, Suzanne Crowley, Eric G. Haarman, Claire Hogg, Bülent Karadağ, Cordula Koerner‐Rettberg, Margaret W. Leigh, Michael R. Loebinger, Henryk Mazurek, Lucy Morgan, Kim G. Nielsen, Heymut Omran, Nicolaus Schwerk, Sergio Scigliano, Claudius Werner, Panayiotis K. Yiallouros, Zorica Živković, Jane S. Lucas, Claudia E. Kuehni
出版 2016Artigo -
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Lung function from school age to adulthood in primary ciliary dyskinesia 由 Florian S. Halbeisen, Eva S.L. Pedersen, Myrofora Goutaki, Ben D. Spycher, Israel Amirav, Mieke Boon, Malena Cohen‐Cymberknoh, Suzanne Crowley, Nagehan Emiralioğlu, Eric G. Haarman, Bülent Karadağ, Cordula Koerner‐Rettberg, Philipp Latzin, Michael R. Loebinger, Jane S. Lucas, Henryk Mazurek, Lucy Morgan, June K. Marthin, Petr Pohunek, Francesca Santamaria, Nicolaus Schwerk, Guillaume Thouvenin, Panayiotis Yiallouros, Kim G. Nielsen, Claudia E. Kuehni
出版 2022Artigo -
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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes 由 Gerard W. Dougherty, Niki T. Loges, Judith A. Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea Menchen, Johanna Raidt, Julia Wallmeier, Claudius Werner, Cordula Westermann, Christian Rückert, Virginia Mirra, Rim Hjeij, Yasin Memari, Richard Durbin, Anja Kolb‐Kokocinski, Kavita Praveen, Mohammad Amin Kashef, Sara Kashef, Fardin Eghtedari, Karsten Häffner, Pekka Valmari, G Baktai, Micha Aviram, Lea Bentur, Israel Amirav, Erica E. Davis, Nicholas Katsanis, Martina Brueckner, Artem Shaposhnykov, Gaia Pigino, Bernd Dworniczak, Heymut Omran
出版 2016Artigo -
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility 由 Asaf Ta‐Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J.F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J.J.T. Rein, Elif Yılmaz Güleç, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
出版 2018Artigo -
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Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort 由 Myrofora Goutaki, Florian S. Halbeisen, Ben D. Spycher, Elisabeth Maurer, Fabiën N. Belle, Israel Amirav, Laura Behan, Mieke Boon, S.B. Carr, Carmen Casaulta, Annick Clément, Suzanne Crowley, Sharon Dell, Thomas W. Ferkol, Eric G. Haarman, Bülent Karadağ, Michael R. Knowles, Cordula Koerner‐Rettberg, Margaret W. Leigh, Michael R. Loebinger, Henryk Mazurek, Lucy Morgan, Kim G. Nielsen, Maria Phillipsen, Scott D. Sagel, Francesca Santamaria, Nicolaus Schwerk, Panayiotis K. Yiallouros, Jane S. Lucas, Claudia E. Kuehni
出版 2017Artigo -
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Randomization of Left-Right Asymmetry and Congenital Heart Defects 由 Tabea Nöthe-Menchen, Julia Wallmeier, Petra Pennekamp, Inga M. Höben, Heike Olbrich, Niki T. Loges, Johanna Raidt, Gerard W. Dougherty, Rim Hjeij, Bernd Dworniczak, Heymut Omran, Israel Amirav, Luisa Biebach, Dorit Fabricius, Matthias Griese, Jörg Große-Onnebrink, Karsten Häffner, Andreas Hector, Andreas Jung, Petra Kaiser‐Labusch, Thomas Kaiser, Christina Keßler, Richard J. Kitz, Michael R. Knowles, Cordula Koerner‐Rettberg, Ulf Kristoffersson, Margaret W. Leigh, Pontus Mertsch, Bernhard Mischo, Kim G. Nielsen, Marco Poeta, Ernst Rietschel, Samra Roth, Francesca Santamaria, Christian Schmalstieg, Miriam Schmidts, C. Schwarz, Nicolaus Schwerk, Horst Seithe, Johannes Tebbe, Claudius Werner, Maimoona A. Zariwala
出版 2019Artigo -
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs 由 Anne‐Christine Merveille, Erica E. Davis, Anita Becker-Heck, Marie Legendre, Israel Amirav, Géraldine Bataille, John W. Belmont, Nicole Beydon, Frédéric Billen, Annick Clément, Cécile Clercx, A. Coste, Rachelle H. Crosbie, J. de Blic, Stéfan Deleuze, Philippe Duquesnoy, Denise Escalier, Estelle Escudier, Manfred Fliegauf, Judith Horvath, Kent L. Hill, Mark Jorissen, J. Just, Andreas Kispert, Mark Lathrop, Niki T. Loges, June K. Marthin, Yukihide Momozawa, Guy Montantin, Kim G. Nielsen, Heike Olbrich, Jean‐François Papon, I Rayet, Gilles Roger, Miriam Schmidts, Henrique Tenreiro, Jeffrey A. Towbin, Diana Zélénika, Hanswalter Zentgraf, Michel Georges, Anne‐Sophie Lequarré, Nicholas Katsanis, Heymut Omran, Serge Amselem
出版 2010Artigo
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