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SpringerLink电子期刊(4)
Elsevier电子期刊(10)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:小于0.01 秒
在所有数据库中总计命中:
14
条
1.
Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays
作者:
Svetlana A. Yatsenko
;
M.D.
a
;
b
;
c
;
Priya Mittal
;
Ph.D.
c
;
d
;
e
;
Michelle A. Wood-Trageser
;
Ph.D.
f
;
Mirka W. Jones
;
M.D.
b
;
Urvashi Surti
;
Ph.D.
a
;
b
;
c
;
d
;
Robert P. Edwards
;
M.D.
a
;
d
;
Anil K. Sood
;
M.D.
g
;
Aleksandar Rajkovic
;
M.D.
;
Ph.D.
a
;
b
;
c
;
d
;
rajkovic@upmc.edu
关键词:
Uterine leiomyoma
;
uterine leiomyosarcoma
;
MED12 mutation negative
;
whole exome sequencing
;
whole genome copy number analysis
刊名:Fertility and Sterility
出版年:2017
2.
A novel mutation in
FBXL4
in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
作者:
Tuva Barø
;
y
a
;
1
;
tuva.baroy@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Christeen Ramane J. Pedurupillay
a
;
1
;
p.j.c.ramane@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Yngve T. Bliksrud
b
;
ybliksru@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
Magnhild Rasmussen
c
;
marasmus@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
Asbjø
;
rn Holmgren
a
;
asbjorh@student.matnat.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Magnus D. Vigeland
a
;
magnusdv@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Timothy Hughes
a
;
timothy.hughes@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Maaike Brink
d
;
Maaike.Brink@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author
;
Richard Rodenburg
d
;
Richard.Rodenburg@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author
;
Bå
;
rd Nedregaard
e
;
bnedrega@ous-hf.no" class="auth_mail" title="E-mail the corresponding author
;
Petter Strø
;
mme
c
;
petter.stromme@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Eirik Frengen
a
;
eirik.frengen@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Doriana Misceo
a
;
doriana.misceo@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
关键词:
FBXL4
;
c.1442T>
C ;
p.Leu481Pro
;
Mitochondrial disorder
;
mtDNA depletion
;
MTDPS13
刊名:European Journal of Medical Genetics
出版年:2016
3.
Analysis of prostate cancer circulating tumour cells isolated with a novel size-based system
作者:
Lei Xu
;
MD
a
;
Xueying Mao
;
PhD
a
;
Pui Ying Chan
;
MBBS
b
;
Jonathan Shamash
;
MD
b
;
Dr Yong-Jie Lu
;
PhD
a
;
y.j.lu@qmul.ac.uk" class="auth_mail" title="E-mail the corresponding author
刊名:The Lancet
出版年:2016
4.
Identification of new
FBXL4
patients with mitochondrial disorders
作者:
Hongzheng Dai
a
;
Tian Xia
a
;
Stella Chen
a
;
Megan Palculict
a
;
Marwan Shinawi
b
;
Can Ficicioglu
c
;
Matthew Lines
d
;
Jing Wang
a
;
Victor Wei Zhang
a
;
Lee-Jun Wong
a
刊名:Mitochondrion
出版年:2015
5.
Recurrent Stroke-Like Episodes in
FBXL4
-Associated Early-Onset Mitochondrial Encephalomyopathy
作者:
Darius Ebrahimi-Fakhari
;
MD
a
;
d.ebrahimi-fakhari@uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author
;
Angelika Seitz
;
MD
b
;
Stefan Kö
;
lker
;
MD
a
;
Georg F. Hoffmann
;
MD
a
刊名:Pediatric Neurology
出版年:2015
6.
Mutations in
FBXL4
Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
作者:
Penelope?E. Bonnen
;
John?W. Yarham
;
Arnaud Besse
;
Ping Wu
;
Eissa?A. Faqeih
;
Ali?Mohammad Al-Asmari
;
Mohammad?A.M. Saleh
;
Wafaa Eyaid
;
Alrukban Hadeel
;
Langping He
;
Frances Smith
;
Shu Yau
;
Eve?M. Simcox
;
Satomi Miwa
;
Taraka Donti
;
Khaled?K. Abu-Amero
;
Lee-Jun Wong
;
William?J. Craigen
;
Brett?H. Graham
;
Kenneth?L. Scott
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
7.
Mutations in
FBXL4
, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
作者:
Xiaowu Gai
;
Daniele Ghezzi
;
Mark?A. Johnson
;
Caroline?A. Biagosch
;
Hanan?E. Shamseldin
;
Tobias?B. Haack
;
Aurelio Reyes
;
Mai Tsukikawa
;
Claire?A. Sheldon
;
Satish Srinivasan
;
Matteo Gorza
;
Laura?S. Kremer
;
Thomas Wiel
;
Tim?M. Strom
;
Erzsebet Polyak
;
Emily Place
;
Mark Consugar
;
Julian Ostrovsky
;
Sara Vidoni
;
Alan?J. Robinson
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
8.
FBXL4
is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy
作者:
Xiaowu Gai
;
Daniele Ghezzi
;
Mark A. Johnson
;
Caroline Biagosch
;
Hanah Shamseldin
;
Mai Tsukikawa
;
Claire Sheldon
;
Satish Srinivasan
;
Tobias Haack
;
Matteo Gorza
;
Thomas Wiel
;
Tim Strom
;
Erzsebet Polyak
;
Emily Place
;
Mark Consugar
;
Julian Ostrovsky
;
Sara Vidoni
;
Aurelio Reyes
;
Lee-Jun Wong
;
Neal Sondheimer
;
et al.
刊名:Mitochondrion
出版年:November, 2013
9.
Mutations in
FBXL4
Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
作者:
Penelope?E. Bonnen
;
John?W. Yarham
;
Arnaud Besse
;
Ping Wu
;
Eissa?A. Faqeih
;
Ali?Mohammad Al-Asmari
;
Mohammad?A.M. Saleh
;
Wafaa Eyaid
;
Alrukban Hadeel
;
Langping He
;
Frances Smith
;
Shu Yau
;
Eve?M. Simcox
;
Satomi Miwa
;
Taraka Donti
;
Khaled?K. Abu-Amero
;
Lee-Jun Wong
;
William?J. Craigen
;
Brett?H. Graham
;
Kenneth?L. Scott
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
10.
The Fly CAMTA Transcription Factor Potentiates Deactivation of Rhodopsin, a G Protein-Coupled Light Receptor
作者:
Junhai Han
;
Ping Gong
;
Keith Reddig
;
Mirna Mitra
;
Peiyi Guo
;
Hong-Sheng Li
刊名:Cell
出版年:2006
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