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Elsevier电子期刊(2)
在“
Elsevier电子期刊
”中,
命中:
2
条,耗时:0.0419795 秒
在所有数据库中总计命中:
2
条
1.
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
作者:
Christeen Ramane J. Pedurupillay
a
;
b
;
1
;
Silja S. Amundsen
a
;
1
;
Tuva
Bar
&
oslash
;
y
a
;
b
;
1
;
Magnhild Rasmussen
c
;
d
;
Anne Blomhoff
a
;
Bar
bro Foss&
oslash
;
y Stadheim
a
;
Kristin &
Oslash
;
rstavik
e
;
Asbj&
oslash
;
rn Holmgren
a
;
Tahir Iqbal
f
;
Eirik Frengen
a
;
b
;
Doriana Misceo
a
;
b
;
Petter Str&
oslash
;
mme
b
;
c
;
petter.stromme@medisin.uio.no" class="auth_mail" title="E-mail the corresponding author
关键词:
Axonal polyneuropathy
;
CMT2S
;
IGHMBP2
;
SMARD1
;
Spinal muscular atrophy
刊名:Neuromuscular Disorders
出版年:2016
2.
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
作者:
Tuva
Bar
&
oslash
;
y
a
;
1
;
tuva
.
bar
oy@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
;
Asbj&
oslash
;
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 Str&
oslash
;
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
1
按检索点细分(2)
作者(2)
按出版年细分(2)
2016年(2)
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