ScienceOpen:
research and publishing network
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
My ScienceOpen
Sign in
Register
Dashboard
Blog
About
Search
Advanced search
My ScienceOpen
Sign in
Register
Dashboard
Search
Search
Advanced search
For Publishers
Discovery
Metadata
Peer review
Hosting
Publishing
For Researchers
Join
Publish
Review
Collect
Blog
About
79
views
0
references
Top references
cited by
151
Cite as...
0 reviews
Review
0
comments
Comment
0
recommends
+1
Recommend
0
collections
Add to
0
shares
Share
Twitter
Sina Weibo
Facebook
Email
1,121
similar
All similar
Record
: found
Abstract
: not found
Article
: not found
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Author(s):
Robert W. Taylor
,
Angela Pyle
,
Helen Griffin
,
Emma Blakely
,
Jennifer Duff
,
Langping He
,
Tania Smertenko
,
Charlotte Alston
,
Vivienne C M Neeve
,
Andrew Best
,
John Yarham
,
Janbernd Kirschner
,
Ulrike Schara
,
Beril Talim
,
Haluk Topaloglu
,
Ivo Baric
,
Elke Holinski-Feder
,
Angela Abicht
,
Birgit Czermin
,
Stephanie Kleinle
,
Andrew A.M. Morris
,
Grace Vassallo
,
Gráinne S. Gorman
,
Venkateswaran Ramesh
,
Douglass M. Turnbull
,
Mauro Santibanez-Koref
,
Robert McFarland
,
Rita Horvath
,
Patrick F Chinnery
Publication date:
2014-07-02
Journal:
JAMA
Publisher:
American Medical Association (AMA)
Read this article at
ScienceOpen
Publisher
Further versions
oa repository (via OAI-PMH doi match)
oa repository (via pmcid lookup)
Powered by
Cite as...
There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Related collections
JAMA Network: Coronavirus
Author and article information
Journal
DOI::
10.1001/jama.2014.7184
Data availability:
Comments
Comment on this article
Sign in to comment
scite_
Similar content
1,121
High prevalence of genetically-determined mannose binding lectin deficiency in young children with invasive pneumococcal disease.
Authors:
C Muñoz-Almagro
,
C. Bautista
,
M. T. García-Arias
…
Careful interpretation of the wound status is needed with use of antibiotic impregnated biodegradable synthetic pure calcium sulfate beads: Series of 39 cases
Authors:
Aditya Menon
,
Rajeev Soman
,
Camilla Rodrigues
…
Occurrence of trichodinid ciliates (Peritricha : Urceolariidae) in the Kiel Fjord, Baltic Sea, and its possible use as a biological indicator.
Authors:
H Palm
,
R. C. Dobberstein
See all similar
Cited by
132
Mitochondrial diseases: the contribution of organelle stress responses to pathology
Authors:
Anu Suomalainen
,
Brendan Battersby
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy
Authors:
Amy Vincent
,
Yi Ng
,
Kathryn White
…
The genetics and pathology of mitochondrial disease
Authors:
Charlotte Alston
,
Mariana Rocha
,
Nichola Z. Lax
…
See all cited by
Version 1
Version 1
Version 1
Version 1