Showing 1–12 of 12 results
-
News and Views |
-
News and Views |
-
Amendments and Corrections | | Open
Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine 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 J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew 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 Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- , Hou-Feng Zheng
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- & George B. Witman
-
Research |
-
Research |
-
Research |
-
Research | | Open
-
Research | | Open
-
Research | | Open
-
Research | | Open
-
Research | | Open
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
- Miriam Schmidts
- , Yuqing Hou
- , Claudio R. Cortés
- , Dorus A. Mans
- , Celine 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 J. Scambler
- , Marius Ueffing
- , Hulya Kayserili
- , Deborah Krakow
- , Stephen M. King
- , Philip L. Beales
- , Lihadh Al-Gazali
- , Carol Wicking
- , Valerie Cormier-Daire
- , Ronald Roepman
- , Hannah M. Mitchison
- , George B. Witman
- , Saeed Al-Turki
- , Carl Anderson
- , Richard Anney
- , Dinu Antony
- , Jennifer Asimit
- , Mohammad Ayub
- , Jeff Barrett
- , Inês Barroso
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Douglas Blackwood
- , Martin Bobrow
- , Elena Bochukova
- , Patrick Bolton
- , Chris Boustred
- , Gerome Breen
- , Marie-Jo Brion
- , Andrew 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 Day
- , Richard Durbin
- , Sarah Edkins
- , Peter Ellis
- , David Evans
- , I. Sadaf Farooqi
- , Ghazaleh Fatemifar
- , David Fitzpatrick
- , Paul Flicek
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Louise Gallagher
- , Tom Gaunt
- , Daniel Geschwind
- , Celia Greenwood
- , Detelina Grozeva
- , Xiaosen Guo
- , Hugh Gurling
- , Deborah Hart
- , Audrey Hendricks
- , Peter Holmans
- , Jie Huang
- , Steve E. Humphries
- , Matt Hurles
- , Pirro Hysi
- , David Jackson
- , Yalda Jamshidi
- , David Jewell
- , Joyce Chris
- , Jane Kaye
- , Thomas Keane
- , John Kemp
- , Karen Kennedy
- , Alastair Kent
- , Anja Kolb-Kokocinski
- , Genevieve Lachance
- , Cordelia Langford
- , Irene Lee
- , Rui Li
- , Yingrui Li
- , Liu Ryan
- , Jouko Lönnqvist
- , Margarida Lopes
- , Daniel G. MacArthur
- , Mangino Massimo
- , Jonathan Marchini
- , John Maslen
- , Shane McCarthy
- , Peter McGuffin
- , Andrew McIntosh
- , Andrew McKechanie
- , Andrew McQuillin
- , Yasin Memari
- , Sarah Metrustry
- , Josine Min
- , Alireza Moayyeri
- , James Morris
- , Dawn Muddyman
- , Francesco Muntoni
- , Kate Northstone
- , Michael O’Donovan
- , Stephen O’Rahilly
- , Alexandros Onoufriadis
- , Karim Oualkacha
- , Michael Owen
- , Aarno Palotie
- , Kalliope Panoutsopoulou
- , Victoria Parker
- , Jeremy Parr
- , Lavinia Paternoster
- , Tiina Paunio
- , Felicity Payne
- , John Perry
- , Olli Pietilainen
- , Vincent Plagnol
- , Michael A. Quail
- , Lydia Quaye
- , Lucy Raymond
- , Karola Rehnström
- , J. Brent Richards
- , Sue Ring
- , Graham R S Ritchie
- , David B. Savage
- , Nadia Schoenmakers
- , Robert K. Semple
- , Eva Serra
- , Hashem Shihab
- , So-Youn Shin
- , David Skuse
- , Kerrin Small
- , Carol Smee
- , Artigas María Soler
- , Nicole Soranzo
- , Lorraine Southam
- , Tim Spector
- , Beate St Pourcain
- , David St. Clair
- , Jim Stalker
- , Gabriela Surdulescu
- , Jaana Suvisaari
- , Ioanna Tachmazidou
- , Jing Tian
- , Nic Timpson
- , Martin Tobin
- , Ana Valdes
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Louise Wain
- , Klaudia Walter
- , Jun Wang
- , Kirsten Ward
- , Ellie Wheeler
- , Ros Whittall
- , Hywel Williams
- , Kathy Williamson
- , Scott G. Wilson
- , Kim Wong
- , Tamieka Whyte
- , Xu ChangJiang
- , Eleftheria Zeggini
- , Feng Zhang
- & Hou-Feng Zheng
-
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
