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Entries: 1-4  
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Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
Authors: Loges, Niki Tomas; Olbrich, Heike; Becker-Heck, Anita; Häffner, Karsten; Heer, Angelina; Reinhard, Christina; Schmidts, Miriam; Kispert, Andreas; Zariwala, Maimoona A.; Leigh, Margaret W.; Knowles, Michael R.; Zentgraf, Hanswalter; Seithe, Horst; Nürnberg, Gudrun; Nürnberg, Peter; Reinhardt, Richard; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2009-11-25
Title of Journal: American Journal of Human Genetics
Volume: 85
Issue / Number: 6
Start Page: 883
End Page: 889
Document Type: Article
ID: 460301.0
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm
Authors: Loges, Niki Tomas; Olbrich, Heike; Fenske, Lale; Mussaffi, Huda; Horvath, Judit; Fliegauf, Manfred; Kuhl, Heiner; Baktai, Gyorgy; Peterffy, Erzsebet; Chodhari, Rahul; Chung, Eddie M.K.; Rutman, Andrew; O'Callaghan, Christopher; Blau, Hannah; Tiszlavicz, Laszlo; Voelkel, Katarzyna; Witt, Michal; Ziętkiewicz, Ewa; Neesen, Juergen; Reinhardt, Richard; Mitchison, Hannah M.; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2008-10-23
Title of Journal: The American Journal of Human Genetics
Volume: 83
Issue / Number: 5
Start Page: 547
End Page: 558
Document Type: Article
ID: 413810.0
 
Full text / Content available
DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
Authors: Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, Maimoona A.; Fliegauf, Manfred; Loges, Niki Tomas; Wildhaber, Johannes; Noone, Peadar G.; Kennedy, Marcus; Antonarakis, Stylianos E.; Blouin, Jean-Louis; Bartoloni, Lucia; Nüsslein, Thomas; Ahrens, Peter; Griese, Matthias; Kuhl, Heiner; Sudbrak, Ralf; Knowles, Michael R.; Reinhardt, Richard; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2006-07-15
Title of Journal: American Journal of Respiratory and Critical Care Medicine : an Official Journal of the American Thoracic Society, Medical Section of the Lung Association
Volume: 174
Issue / Number: 2
Start Page: 120
End Page: 126
Document Type: Article
ID: 305175.0
DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
Authors: Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, Maimoona A.; Fliegauf, Manfred; Loges, Niki Tomas; Wildhaber, Johannes; Noone, Peadar G.; Kennedy, Marcus; Antonarakis, Stylianos E.; Blouin, Jean-Louis; Bartoloni, Lucia; Nüsslein, Thomas; Ahrens, Peter; Griese, Matthias; Kuhl, Heiner; Sudbrak, Ralf; Knowles, Michael R.; Reinhardt, Richard; Omran, Heymut
Date of Publication (YYYY-MM-DD): 2006-07-15
Title of Journal: American Journal of Respiratory and Critical Care Medicine : an Official Journal of the American Thoracic Society, Medical Section of the Lung Association
Volume: 174
Issue / Number: 2
Start Page: 120
End Page: 126
Document Type: Article
ID: 305187.0
Entries: 1-4  
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