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Elsevier电子期刊
”中,
命中:
1
条,耗时:0.1319067 秒
1.
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency
作者:
Efterpi Pavlidou
a
;
efterpi.pavlidou@g
mail
.com"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Vincenzo Salpietro
a
;
b
;
salpietroenzo@yahoo.it"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Rahul Phadke
b
;
r.phadke@ucl.ac.uk"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Iain P. Hargreaves
b
;
iain.hargreaves@uclh.
nhs
.uk"
class
="auth_
mail
"
title
="E-
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the
corresponding
author
;
Leigh Batten
c
;
leigh.batten@tdlpathology.com"
class
="auth_
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"
title
="E-
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the
corresponding
author
;
Kenneth McElreavy
d
;
kenneth.mcelreavey@pasteur.fr"
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mail
"
title
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the
corresponding
author
;
Matthew Pitt
e
;
f
;
Matthew.Pitt@gosh.
nhs
.uk"
class
="auth_
mail
"
title
="E-
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the
corresponding
author
;
Kshitij
Mankad
e
;
f
;
kshitij
.mankad@gosh.
nhs
.uk"
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="auth_
mail
"
title
="E-
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the
corresponding
author
;
Clare Wilson
g
;
clarewil25@yahoo.com"
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"
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the
corresponding
author
;
Maria Concetta Cutrupi
h
;
mcutrupi@libero.it"
class
="auth_
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"
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="E-
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the
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;
Martino Ruggieri
i
;
m.ruggieri@unict.it"
class
="auth_
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"
title
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the
corresponding
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;
David McCormick
e
;
j
;
davidmccormick@
nhs
.net"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Anand Saggar
e
;
k
;
a.saggar@hspg.org.uk"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Maria Kinali
a
;
e
;
m.kinali@imperial.ac.uk"
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="auth_
mail
"
title
="E-
mail
the
corresponding
author
关键词:
Pontocerebellar hypoplasia
;
SEPSECS
;
Selenoprotein biosynthesis deficiency
;
Optic nerve atrophy
;
Mitochondrial myopathy
刊名:European Journal of Paediatric Neurology
出版年:2016
1
按检索点细分(1)
作者(1)
按出版年细分(1)
2016年(1)
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