Showing 1–20 of 20 results
-
Amendments and Corrections | | Open
-
Research | | Open
-
Amendments and Corrections |
-
Research | | Open
-
Amendments and Corrections |
Correction: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Emma M Jenkinson
- , Mathieu P Rodero
- , Paul R Kasher
- , Carolina Uggenti
- , Anthony Oojageer
- , Laurence C Goosey
- , Yoann Rose
- , Christopher J Kershaw
- , Jill E Urquhart
- , Simon G Williams
- , Sanjeev S Bhaskar
- , James O'Sullivan
- , Gabriela M Baerlocher
- , Monika Haubitz
- , Geraldine Aubert
- , Kristin W Barañano
- , Angela J Barnicoat
- , Roberta Battini
- , Andrea Berger
- , Edward M Blair
- , Janice E Brunstrom-Hernandez
- , Johannes A Buckard
- , David M Cassiman
- , Rosaline Caumes
- , Duccio M Cordelli
- , Liesbeth M De Waele
- , Alexander J Fay
- , Patrick Ferreira
- , Nicholas A Fletcher
- , Alan E Fryer
- , Himanshu Goel
- , Cheryl A Hemingway
- , Marco Henneke
- , Imelda Hughes
- , Rosalind J Jefferson
- , Ram Kumar
- , Lieven Lagae
- , Pierre G Landrieu
- , Charles M Lourenço
- , Timothy J Malpas
- , Sarju G Mehta
- , Imke Metz
- , Sakkubai Naidu
- , Katrin Õunap
- , Axel Panzer
- , Prab Prabhakar
- , Gerardine Quaghebeur
- , Raphael Schiffmann
- , Elliott H Sherr
- , Kanaga R Sinnathuray
- , Calvin Soh
- , Helen S Stewart
- , John Stone
- , Hilde Van Esch
- , Christine E G Van Mol
- , Adeline Vanderver
- , Emma L Wakeling
- , Andrea Whitney
- , Graham D Pavitt
- , Sam Griffiths-Jones
- , Gillian I Rice
- , Patrick Revy
- , Marjo S van der Knaap
- , John H Livingston
- , Raymond T O'Keefe
- & Yanick J Crow
-
-
| Open
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
- Elfrida R. Benjamin
- , Maria Cecilia Della Valle
- , Xiaoyang Wu
- , Evan Katz
- , Farhana Pruthi
- , Sarah Bond
- , Benjamin Bronfin
- , Hadis Williams
- , Julie Yu
- , Daniel G. Bichet
- , Dominique P. Germain
- , Roberto Giugliani
- , Derralynn Hughes
- , Raphael Schiffmann
- , William R. Wilcox
- , Robert J. Desnick
- , John Kirk
- , Jay Barth
- , Carrolee Barlow
- , Kenneth J. Valenzano
- , Jeff Castelli
- & David J. Lockhart
-
| Open
-
Research |
-
Research |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
- Gert C Scheper
- , Thom van der Klok
- , Rob J van Andel
- , Carola G M van Berkel
- , Marie Sissler
- , Joél Smet
- , Tatjana I Muravina
- , Sergey V Serkov
- , Graziella Uziel
- , Marianna Bugiani
- , Raphael Schiffmann
- , Ingeborg Krägeloh-Mann
- , Jan A M Smeitink
- , Catherine Florentz
- , Rudy Van Coster
- , Jan C Pronk
- & Marjo S van der Knaap
-
-
Research |
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- Beverley H Anderson
- , Paul R Kasher
- , Josephine Mayer
- , Marcin Szynkiewicz
- , Emma M Jenkinson
- , Sanjeev S Bhaskar
- , Jill E Urquhart
- , Sarah B Daly
- , Jonathan E Dickerson
- , James O'Sullivan
- , Elisabeth Oppliger Leibundgut
- , Joanne Muter
- , Ghada M H Abdel-Salem
- , Riyana Babul-Hirji
- , Peter Baxter
- , Andrea Berger
- , Luisa Bonafé
- , Janice E Brunstom-Hernandez
- , Johannes A Buckard
- , David Chitayat
- , Wui K Chong
- , Duccio M Cordelli
- , Patrick Ferreira
- , Joel Fluss
- , Ewan H Forrest
- , Emilio Franzoni
- , Caterina Garone
- , Simon R Hammans
- , Gunnar Houge
- , Imelda Hughes
- , Sebastien Jacquemont
- , Pierre-Yves Jeannet
- , Rosalind J Jefferson
- , Ram Kumar
- , Georg Kutschke
- , Staffan Lundberg
- , Charles M Lourenço
- , Ramesh Mehta
- , Sakkubai Naidu
- , Ken K Nischal
- , Luís Nunes
- , Katrin Õunap
- , Michel Philippart
- , Prab Prabhakar
- , Sarah R Risen
- , Raphael Schiffmann
- , Calvin Soh
- , John B P Stephenson
- , Helen Stewart
- , Jon Stone
- , John L Tolmie
- , Marjo S van der Knaap
- , Jose P Vieira
- , Catheline N Vilain
- , Emma L Wakeling
- , Vanessa Wermenbol
- , Andrea Whitney
- , Simon C Lovell
- , Stefan Meyer
- , John H Livingston
- , Gabriela M Baerlocher
- , Graeme C M Black
- , Gillian I Rice
- & Yanick J Crow
-
Research |
-
Research |
-
Research | | Open
-
Research | | Open
-
Research |
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Emma M Jenkinson
- , Mathieu P Rodero
- , Paul R Kasher
- , Carolina Uggenti
- , Anthony Oojageer
- , Laurence C Goosey
- , Yoann Rose
- , Christopher J Kershaw
- , Jill E Urquhart
- , Simon G Williams
- , Sanjeev S Bhaskar
- , James O'Sullivan
- , Gabriela M Baerlocher
- , Monika Haubitz
- , Geraldine Aubert
- , Kristin W Barañano
- , Angela J Barnicoat
- , Roberta Battini
- , Andrea Berger
- , Edward M Blair
- , Janice E Brunstrom-Hernandez
- , Johannes A Buckard
- , David M Cassiman
- , Rosaline Caumes
- , Duccio M Cordelli
- , Liesbeth M De Waele
- , Alexander J Fay
- , Patrick Ferreira
- , Nicholas A Fletcher
- , Alan E Fryer
- , Himanshu Goel
- , Cheryl A Hemingway
- , Marco Henneke
- , Imelda Hughes
- , Rosalind J Jefferson
- , Ram Kumar
- , Lieven Lagae
- , Pierre G Landrieu
- , Charles M Lourenço
- , Timothy J Malpas
- , Sarju G Mehta
- , Imke Metz
- , Sakkubai Naidu
- , Katrin Õunap
- , Axel Panzer
- , Prab Prabhakar
- , Gerardine Quaghebeur
- , Raphael Schiffmann
- , Elliott H Sherr
- , Kanaga R Sinnathuray
- , Calvin Soh
- , Helen S Stewart
- , John Stone
- , Hilde Van Esch
- , Christine E G Van Mol
- , Adeline Vanderver
- , Emma L Wakeling
- , Andrea Whitney
- , Graham D Pavitt
- , Sam Griffiths-Jones
- , Gillian I Rice
- , Patrick Revy
- , Marjo S van der Knaap
- , John H Livingston
- , Raymond T O'Keefe
- & Yanick J Crow
-
Research |
-
Research |
-
Research |
