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Wiley电子期刊(8)
SpringerLink电子期刊(113)
Elsevier电子期刊(218)
Springer电子图书(2)
NATURE电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
218
条,耗时:小于0.01 秒
在所有数据库中总计命中:
342
条
1.
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in
arthrogryposis
multiplex congenita and myopathy without cardiac involvement
作者:
Ana Ferná
;
ndez-Marmiesse
a
;
b
;
&dagger
;
;
amarmiesse@gmail.com
;
M. Carmen Carrascosa-Romero
c
;
&dagger
;
;
Blanca Alfaro Ponce
d
;
Andres Nascimento
e
;
Carlos Ortez
e
;
Norma Romero
f
;
Lourdes Palacios
g
;
Cecilia Jimenez-Mallebrera
b
;
e
;
Cristina Jou
b
;
h
;
Sofí
;
a Gouveia
a
;
Marí
;
a L. Couce
a
;
b
关键词:
TTN
;
Arthrogryposis
multiplex congenita
;
Core myopathy
;
Prenatally expressed isoform
;
Isodisomy
刊名:Neuromuscular Disorders
出版年:2017
2.
Microcephaly and
arthrogryposis
multiplex congenita: The full-blown CNS spectrum in newborns with ZIKV infection
作者:
Marcio Leyser
;
marcioley@icloud.com
;
Alexandre Fernandes
;
Pamela Passos
;
Camila Pupe
;
Andre PC Matta
;
Marcio Moacyr Vasconcelos
;
Osvaldo JM Nascimento
刊名:Journal of the Neurological Sciences
出版年:2017
3.
Characterization of a group unrelated patients with
arthrogryposis
multiplex congenita
作者:
Margarita Valdé
;
s-Flores
a
;
1
;
Leonora Casas-Avila
a
;
1
;
Edgar Herná
;
ndez-Zamora
a
;
edgarhz1969@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author
;
Susana Kofman
b
;
Alberto Hidalgo-Bravo
a
关键词:
Contracture
;
Arthrogryposis
;
Amyoplasia congenita
刊名:Jornal de Pediatria
出版年:2016
4.
Characterization of a group unrelated patients with
arthrogryposis
multiplex congenita
作者:
Margarita Valdé
;
s‐Flores
a
;
1
;
Leonora Casas‐Avila
a
;
1
;
Edgar Herná
;
ndez‐Zamora
a
;
edgarhz1969@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author
;
Susana Kofman
b
;
Alberto Hidalgo-Bravo
a
关键词:
Contracture
;
Arthrogryposis
;
Amyoplasia congenita
刊名:Jornal de Pediatria (Versão em Português)
出版年:2016
5.
Recurrent de novo BICD2 mutation associated with
arthrogryposis
multiplex congenita and bilateral perisylvian polymicrogyria
作者:
Gianina Ravenscroft
a
;
gina.ravenscroft@perkins.uwa.edu.au" class="auth_mail" title="E-mail the corresponding author
;
Nataliya Di Donato
b
;
Gabriele Hahn
c
;
Mark R. Davis
d
;
Paul D. Craven
e
;
Gemma Poke
f
;
Katherine R. Neas
f
;
Teresa M. Neuhann
g
;
William B. Dobyns
h
;
Nigel G. Laing
a
;
d
关键词:
Arthrogryposis
;
Fetal akinesia
;
BICD2
;
Perisylvian polymicrogyria
刊名:Neuromuscular Disorders
出版年:2016
6.
Novel VIPAS39 mutation in a syndromic patient with
arthrogryposis
, renal tubular dysfunction and intrahepatic cholestasis
作者:
Majid Aflatounian
a
;
Holly Smith
b
;
Fatemeh Farahani
a
;
Azam Tofighi Naeem
a
;
Anna Straatman-Iwanowska
b
;
Samaneh Zoghi
d
;
Urvi Khatri
b
;
Parisa Tajdini
a
;
Gholam Hossein Fallahi
a
;
Paul Gissen
b
;
Nima Rezaei
c
;
d
;
e
;
rezaei_nima@tums.ac.ir" class="auth_mail" title="E-mail the corresponding author
关键词:
Syndrome
;
Mutation
;
Prenatal diagnosis
;
Cholestasis
刊名:European Journal of Medical Genetics
出版年:2016
7.
Evaluation of the first web-space narrowing in congenital anomalies with Z-deformity
作者:
Takehiko Takagi
a
;
b
;
ttkg7@me.com" class="auth_mail" title="E-mail the corresponding author
;
Atsuhito Seki
b
;
Shinichiro Takayama
b
;
Joji Mochida
a
关键词:
First web
;
Z-deformity
;
Congenital anomaly
;
Arthrogryposis
multiplex congenita
刊名:Journal of Plastic, Reconstructive & Aesthetic Surgery
出版年:2016
8.
Muscle biopsy findings in a child with NALCN gene mutation
作者:
Indu Sivaraman
a
;
Neil R. Friedman
a
;
Richard A. Prayson
b
;
c
;
praysor@ccf.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Arthrogryposis
;
Mitochondrial myopathy
;
Muscle biopsy
;
NALCN
;
Ragged red fiber
刊名:Journal of Clinical Neuroscience
出版年:2016
9.
A novel neuromuscular form of glycogen storage disease type IV with
arthrogryposis
, spinal stiffness and rare polyglucosan bodies in muscle
作者:
Edoardo Malfatti
a
;
b
;
c
;
d
;
Christine Barnerias
d
;
e
;
f
;
Carola Hedberg-Oldfors
g
;
Cyril Gitiaux
d
;
f
;
h
;
Audrey Benezit
d
;
e
;
f
;
Anders Oldfors
g
;
Robert-Yves Carlier
d
;
f
;
i
;
j
;
Susana Quijano-Roy
d
;
f
;
j
;
Norma B. Romero
a
;
b
;
c
;
d
;
nb.romero@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Glycogen storage disorders
;
Glycogenosis type IV
;
Branching enzyme deficiency
;
Metabolic myopathies
;
Polyglucosan
刊名:Neuromuscular Disorders
出版年:2016
10.
A Highly Conserved Yet Flexible Linker Is Part of a Polymorphic Protein-Binding Domain in Myosin-Binding Protein C
作者:
Katharine A. Michie
1
;
Ann H. Kwan
1
;
Chang-Shung Tung
2
;
3
;
J. Mitchell Guss
1
;
Jill Trewhella
1
;
4
;
jill.trewhella@sydney.edu.au" class="auth_mail" title="E-mail the corresponding author
关键词:
cardiac myosin binding protein C
;
binding domain
;
calmodulin
;
protein structure
;
small-angle scattering
;
SAXS
;
NMR
;
hypertrophic cardiomyopathy
;
clinically-linked mutation
;
distal
arthrogryposis
刊名:Structure
出版年:2016
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