Showing 1–5 of 5 results
-
Research |
-
Research | | Open
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
- Albane A. Bizet
- , Anita Becker-Heck
- , Rebecca Ryan
- , Kristina Weber
- , Emilie Filhol
- , Pauline Krug
- , Jan Halbritter
- , Marion Delous
- , Marie-Christine Lasbennes
- , Bolan Linghu
- , Edward J. Oakeley
- , Mohammed Zarhrate
- , Patrick Nitschké
- , Meriem Garfa-Traore
- , Fabrizio Serluca
- , Fan Yang
- , Tewis Bouwmeester
- , Lucile Pinson
- , Elisabeth Cassuto
- , Philippe Dubot
- , Neveen A. Soliman Elshakhs
- , José A. Sahel
- , Rémi Salomon
- , Iain A. Drummond
- , Marie-Claire Gubler
- , Corinne Antignac
- , Salahdine Chibout
- , Joseph D. Szustakowski
- , Friedhelm Hildebrandt
- , Esben Lorentzen
- , Andreas W. Sailer
- , Alexandre Benmerah
- , Pierre Saint-Mezard
- & Sophie Saunier
-
Research |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
- Jennifer R Panizzi
- , Anita Becker-Heck
- , Victoria H Castleman
- , Dalal A Al-Mutairi
- , Yan Liu
- , Niki T Loges
- , Narendra Pathak
- , Christina Austin-Tse
- , Eamonn Sheridan
- , Miriam Schmidts
- , Heike Olbrich
- , Claudius Werner
- , Karsten Häffner
- , Nathan Hellman
- , Rahul Chodhari
- , Amar Gupta
- , Albrecht Kramer-Zucker
- , Felix Olale
- , Rebecca D Burdine
- , Alexander F Schier
- , Christopher O'Callaghan
- , Eddie M K Chung
- , Richard Reinhardt
- , Hannah M Mitchison
- , Stephen M King
- , Heymut Omran
- & Iain A Drummond
-
Research |
-
Research |
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
- Edgar A Otto
- , Bernhard Schermer
- , Tomoko Obara
- , John F O'Toole
- , Karl S Hiller
- , Adelheid M Mueller
- , Rainer G Ruf
- , Julia Hoefele
- , Frank Beekmann
- , Daniel Landau
- , John W Foreman
- , Judith A Goodship
- , Tom Strachan
- , Andreas Kispert
- , Matthias T Wolf
- , Marie F Gagnadoux
- , Hubert Nivet
- , Corinne Antignac
- , Gerd Walz
- , Iain A Drummond
- , Thomas Benzing
- & Friedhelm Hildebrandt
