Showing 1–11 of 11 results
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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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Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
- Fiona E. Karet
- , Karin E. Finberg
- , Raoul D. Nelson
- , Ahmet Nayir
- , Hilal Mocan
- , Sami A. Sanjad
- , Juan Rodriguez-Soriano
- , Fernando Santos
- , Cor W.R.J. Cremers
- , Antonio Di Pietro
- , Barry I. Hoffbrand
- , Jacek Winiarski
- , Aysin Bakkaloglu
- , Seza Ozen
- , Ruhan Dusunsel
- , Paul Goodyer
- , Sally A. Hulton
- , Doris K. Wu
- , Anne B. Skvorak
- , Cynthia C. Morton
- , Michael J. Cunningham
- , Vivekanand Jha
- & Richard P. Lifton
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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
- Lynn M. Boyden
- , Murim Choi
- , Keith A. Choate
- , Carol J. Nelson-Williams
- , Anita Farhi
- , Hakan R. Toka
- , Irina R. Tikhonova
- , Robert Bjornson
- , Shrikant M. Mane
- , Giacomo Colussi
- , Marcel Lebel
- , Richard D. Gordon
- , Ben A. Semmekrot
- , Alain Poujol
- , Matti J. Välimäki
- , Maria E. De Ferrari
- , Sami A. Sanjad
- , Michael Gutkin
- , Fiona E. Karet
- , Joseph R. Tucci
- , Jim R. Stockigt
- , Kim M. Keppler-Noreuil
- , Craig C. Porter
- , Sudhir K. Anand
- , Margo L. Whiteford
- , Ira D. Davis
- , Stephanie B. Dewar
- , Alberto Bettinelli
- , Jeffrey J. Fadrowski
- , Craig W. Belsha
- , Tracy E. Hunley
- , Raoul D. Nelson
- , Howard Trachtman
- , Trevor R. P. Cole
- , Maury Pinsk
- , Detlef Bockenhauer
- , Mohan Shenoy
- , Priya Vaidyanathan
- , John W. Foreman
- , Majid Rasoulpour
- , Farook Thameem
- , Hania Z. Al-Shahrouri
- , Jai Radhakrishnan
- , Ali G. Gharavi
- , Beatrice Goilav
- & Richard P. Lifton