Showing 1–9 of 9 results
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Research |
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
- Yanli Fan
- , Muneer A Esmail
- , Stephen J Ansley
- , Oliver E Blacque
- , Keith Boroevich
- , Alison J Ross
- , Susan J Moore
- , Jose L Badano
- , Helen May-Simera
- , Deanna S Compton
- , Jane S Green
- , Richard Alan Lewis
- , Mieke M van Haelst
- , Patrick S Parfrey
- , David L Baillie
- , Philip L Beales
- , Nicholas Katsanis
- , William S Davidson
- & Michel R Leroux
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Research |
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
- Stephen J. Ansley
- , Jose L. Badano
- , Oliver E. Blacque
- , Josephine Hill
- , Bethan E. Hoskins
- , Carmen C. Leitch
- , Jun Chul Kim
- , Alison J. Ross
- , Erica R. Eichers
- , Tanya M. Teslovich
- , Allan K. Mah
- , Robert C. Johnsen
- , John C. Cavender
- , Richard Alan Lewis
- , Michel R. Leroux
- , Philip L. Beales
- & Nicholas Katsanis
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Reviews |
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Research |
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Reviews |
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Reviews |
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Research |
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
- Alison J Ross
- , Helen May-Simera
- , Erica R Eichers
- , Masatake Kai
- , Josephine Hill
- , Daniel J Jagger
- , Carmen C Leitch
- , J Paul Chapple
- , Peter M Munro
- , Shannon Fisher
- , Perciliz L Tan
- , Helen M Phillips
- , Michel R Leroux
- , Deborah J Henderson
- , Jennifer N Murdoch
- , Andrew J Copp
- , Marie-Madeleine Eliot
- , James R Lupski
- , David T Kemp
- , Hélène Dollfus
- , Masazumi Tada
- , Nicholas Katsanis
- , Andrew Forge
- & Philip L Beales
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Research |
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Research |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
- John A Sayer
- , Edgar A Otto
- , John F O'Toole
- , Gudrun Nurnberg
- , Michael A Kennedy
- , Christian Becker
- , Hans Christian Hennies
- , Juliana Helou
- , Massimo Attanasio
- , Blake V Fausett
- , Boris Utsch
- , Hemant Khanna
- , Yan Liu
- , Iain Drummond
- , Isao Kawakami
- , Takehiro Kusakabe
- , Motoyuki Tsuda
- , Li Ma
- , Hwankyu Lee
- , Ronald G Larson
- , Susan J Allen
- , Christopher J Wilkinson
- , Erich A Nigg
- , Chengchao Shou
- , Concepcion Lillo
- , David S Williams
- , Bernd Hoppe
- , Markus J Kemper
- , Thomas Neuhaus
- , Melissa A Parisi
- , Ian A Glass
- , Marianne Petry
- , Andreas Kispert
- , Joachim Gloy
- , Athina Ganner
- , Gerd Walz
- , Xueliang Zhu
- , Daniel Goldman
- , Peter Nurnberg
- , Anand Swaroop
- , Michel R Leroux
- & Friedhelm Hildebrandt
