Showing 1–12 of 12 results
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Amendments and Corrections |
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Research |
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Amendments and Corrections |
Correction: Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
- Andrew R Cullinane
- , Anna Straatman-Iwanowska
- , Andreas Zaucker
- , Yoshiyuki Wakabayashi
- , Christopher K Bruce
- , Guanmei Luo
- , Fatimah Rahman
- , Figen Gürakan
- , Eda Utine
- , Tanju B Özkan
- , Jonas Denecke
- , Jurica Vukovic
- , Maja Di Rocco
- , Hanna Mandel
- , Hakan Cangul
- , Randolph P Matthews
- , Steve G Thomas
- , Joshua Z Rappoport
- , Irwin M Arias
- , Hartwig Wolburg
- , A S Knisely
- , Deirdre A Kelly
- , Ferenc Müller
- , Eamonn R Maher
- & Paul Gissen
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Research | | Open
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Research |
Mutations in TJP2 cause progressive cholestatic liver disease
- Melissa Sambrotta
- , Sandra Strautnieks
- , Efterpi Papouli
- , Peter Rushton
- , Barnaby E Clark
- , David A Parry
- , Clare V Logan
- , Lucy J Newbury
- , Binita M Kamath
- , Simon Ling
- , Tassos Grammatikopoulos
- , Bart E Wagner
- , John C Magee
- , Ronald J Sokol
- , Giorgina Mieli-Vergani
- , Joshua D Smith
- , Colin A Johnson
- , Patricia McClean
- , Michael A Simpson
- , A S Knisely
- , Laura N Bull
- & Richard J Thompson
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Research |
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Research |
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
- Paul Gissen
- , Colin A Johnson
- , Neil V Morgan
- , Janneke M Stapelbroek
- , Tim Forshew
- , Wendy N Cooper
- , Patrick J McKiernan
- , Leo W J Klomp
- , Andrew A M Morris
- , James E Wraith
- , Patricia McClean
- , Sally A Lynch
- , Richard J Thompson
- , Bryan Lo
- , Oliver W Quarrell
- , Maja Di Rocco
- , Richard C Trembath
- , Hanna Mandel
- , S Wali
- , Fiona E Karet
- , A S Knisely
- , Roderick H J Houwen
- , Deirdre A Kelly
- & Eamonn R Maher
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Research | | Open
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
- Natalia Gomez-Ospina
- , Carol J. Potter
- , Rui Xiao
- , Kandamurugu Manickam
- , Mi-Sun Kim
- , Kang Ho Kim
- , Benjamin L. Shneider
- , Jennifer L. Picarsic
- , Theodora A. Jacobson
- , Jing Zhang
- , Weimin He
- , Pengfei Liu
- , A. S. Knisely
- , Milton J. Finegold
- , Donna M. Muzny
- , Eric Boerwinkle
- , James R. Lupski
- , Sharon E. Plon
- , Richard A. Gibbs
- , Christine M. Eng
- , Yaping Yang
- , Gabriel C. Washington
- , Matthew H. Porteus
- , William E. Berquist
- , Neeraja Kambham
- , Ravinder J. Singh
- , Fan Xia
- , Gregory M. Enns
- & David D. Moore
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Research |
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Research |
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
- Andrew R Cullinane
- , Anna Straatman-Iwanowska
- , Andreas Zaucker
- , Yoshiyuki Wakabayashi
- , Christopher K Bruce
- , Guanmei Luo
- , Fatimah Rahman
- , Figen Gürakan
- , Eda Utine
- , Tanju B Özkan
- , Jonas Denecke
- , Jurica Vukovic
- , Maja Di Rocco
- , Hanna Mandel
- , Hakan Cangul
- , Randolph P Matthews
- , Steve G Thomas
- , Joshua Z Rappoport
- , Irwin M Arias
- , Hartwig Wolburg
- , A S Knisely
- , Deirdre A Kelly
- , Ferenc Müller
- , Eamonn R Maher
- & Paul Gissen
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