Showing 1–12 of 12 results
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Amendments and Corrections |
Correction: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
- Neil V Morgan
- , Shawn K Westaway
- , Jenny E V Morton
- , Allison Gregory
- , Paul Gissen
- , Scott Sonek
- , Hakan Cangul
- , Jason Coryell
- , Natalie Canham
- , Nardo Nardocci
- , Giovanna Zorzi
- , Shanaz Pasha
- , Diana Rodriguez
- , Isabelle Desguerre
- , Amar Mubaidin
- , Enrico Bertini
- , Richard C Trembath
- , Alessandro Simonati
- , Carolyn Schanen
- , Colin A Johnson
- , Barbara Levinson
- , C Geoffrey Woods
- , Beth Wilmot
- , Patricia Kramer
- , Jane Gitschier
- , Eamonn R Maher
- & Susan J Hayflick
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Research |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
- Ursula M Smith
- , Mark Consugar
- , Louise J Tee
- , Brandy M McKee
- , Esther N Maina
- , Shelly Whelan
- , Neil V Morgan
- , Erin Goranson
- , Paul Gissen
- , Stacie Lilliquist
- , Irene A Aligianis
- , Christopher J Ward
- , Shanaz Pasha
- , Rachaneekorn Punyashthiti
- , Saghira Malik Sharif
- , Philip A Batman
- , Christopher P Bennett
- , C Geoffrey Woods
- , Carole McKeown
- , Martine Bucourt
- , Caroline A Miller
- , Phillip Cox
- , Lihadh AlGazali
- , Richard C Trembath
- , Vicente E Torres
- , Tania Attie-Bitach
- , Deirdre A Kelly
- , Eamonn R Maher
- , Vincent H Gattone II
- , Peter C Harris
- & Colin A Johnson
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Research |
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Research |
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3
- Jan C. Pronk
- , Rachel A. Gibson
- , Anna Savoia
- , Mario Wijker
- , Neil V. Morgan
- , Salvatore Melchionda
- , Deborah Ford
- , Samia Temtamy
- , Juan J. Ortega
- , Stander Jansen
- , Charmaine Havenga
- , Richard J. Cohn
- , Thomy J. de Ravel
- , Irene Roberts
- , Andries Westerveld
- , Douglas F. Easton
- , Hans Joenje
- , Christopher G. Mathew
- & Fré Arwert
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Research |
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
- Irene A Aligianis
- , Colin A Johnson
- , Paul Gissen
- , Dongrong Chen
- , Daniel Hampshire
- , Katrin Hoffmann
- , Esther N Maina
- , Neil V Morgan
- , Louise Tee
- , Jenny Morton
- , John R Ainsworth
- , Denise Horn
- , Elisabeth Rosser
- , Trevor R P Cole
- , Irene Stolte-Dijkstra
- , Karen Fieggen
- , Jill Clayton-Smith
- , André Mégarbané
- , Julian P Shield
- , Ruth Newbury-Ecob
- , William B Dobyns
- , John M Graham Jr
- , Klaus W Kjaer
- , Mette Warburg
- , Jacqueline Bond
- , Richard C Trembath
- , Laura W Harris
- , Yoshimi Takai
- , Stefan Mundlos
- , David Tannahill
- , C Geoffery Woods
- & Eamonn R Maher
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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 |
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
- Neil V Morgan
- , Shawn K Westaway
- , Jenny E V Morton
- , Allison Gregory
- , Paul Gissen
- , Scott Sonek
- , Hakan Cangul
- , Jason Coryell
- , Natalie Canham
- , Nardo Nardocci
- , Giovanna Zorzi
- , Shanaz Pasha
- , Diana Rodriguez
- , Isabelle Desguerre
- , Amar Mubaidin
- , Enrico Bertini
- , Richard C Trembath
- , Alessandro Simonati
- , Carolyn Schanen
- , Colin A Johnson
- , Barbara Levinson
- , C Geoffrey Woods
- , Beth Wilmot
- , Patricia Kramer
- , Jane Gitschier
- , Eamonn R Maher
- & Susan J Hayflick
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Research | | Open
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Research | | Open
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Research |
Positional cloning of the Fanconi anaemia group A gene
- Sinoula Apostolou
- , Scott A. Whitmore
- , Joanna Crawford
- , Gregory Lennon
- , Grant R. Sutherland
- , David F. Callen
- , Leonarda lanzano
- , Maria Savino
- , Maria D'Apolito
- , Angelo Notarangeio
- , Elena Memeo
- , Maria Rosaria Piemontese
- , Leopoldo Zelante
- , Anna Savoia
- , Rachel A. Gibson
- , Alex J. Tipping
- , Neil V. Morgan
- , Sheila Hassock
- , Stander Jansen
- , Thomy J. de Ravel
- , Carola Van Berkell
- , Jan C. Pronk
- , Douglas F. Easton
- , Christopher G. Mathew
- , Orna Levran
- , Peter C. Verlander
- , Sat Dev Batish
- , Tamar Erlich
- , Arleen D. Auerbach
- , Anne-Marie Cleton-Jansen
- , Elna W. Moerland
- , Cees J. Cornelisse
- , Norman A. Doggett
- , Larry L. Deaven
- & Robert K. Moyzis
