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内部出版物
Wiley电子期刊(17)
NATURE电子期刊(3)
ACS电子期刊(3)
SpringerLink电子期刊(47)
Elsevier电子期刊(70)
在“
Elsevier电子期刊
”中,
命中:
70
条,耗时:0.095986 秒
在所有数据库中总计命中:
140
条
1.
Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration
作者:
De
bbie L.C. van
de
n Berg
1
;
de
bbie.van
de
nberg@crick.ac.uk
;
Roberta Azzarelli
1
;
Koji Oishi
1
;
Ben Martynoga
1
;
Noelia Urbá
;
n
1
;
Dick H.W.
De
kkers
2
;
Jeroen A.
De
mmers
2
;
Franç
;
ois Guillemot
1
;
3
;
francois.guillemot@crick.ac.uk
关键词:
Nipbl
;
Zfp609
;
Cornelia
de
Lange
syndrome
;
Integrator
;
neuronal migration
;
transcription
;
RNA pol2 pausing
刊名:Neuron
出版年:2017
2.
Improvement in hearing loss over time in
Cornelia
de
Lange
syndrome
作者:
Kevin C. Janek
a
;
1
;
David F. Smith
b
;
1
;
Antonie D. Kline
c
;
James R. Benke
d
;
Mei-Ling Chen
e
;
Amy Kimball
c
;
Stacey L. Ishman
b
;
f
;
g
;
stacey.ishman@cchmc.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Cornelia
de
Lange
syndrome
;
Hearing loss
;
Auditory neuropathy
;
CdLS
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2016
3.
Syndrome
de
Cornelia
de
Lange
: à propos d’un cas
作者:
S. El Kettani
;
sksoueda@gmail.com" class="auth_mail" title="E-mail the corresponding author
(Dr)
;
M. Amjad (Dr)
;
A. Meftah (Dr)
;
Z. Imane (Pr)
刊名:Annales d'Endocrinologie
出版年:2016
4.
Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial
de
letions of 8q23.3-q24.11 and 8q24.13 associated with
Lange
r-Giedion
syndrome
,
Cornelia
de
Lange
syndrome
and haploinsufficiency of TRPS1, RAD21 and EXT1
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Ming-Huei Lin
a
;
Yi-Yung Chen
a
;
Schu-Rern Chern
b
;
Yen-Ni Chen
a
;
Peih-Shan Wu
g
;
Chen-Wen Pan
a
;
Meng-Shan Lee
a
;
Wayseen Wang
b
;
h
关键词:
8q23.3&ndash
;
q24.13
de
letion
;
Cornelia
de
Lange
syndrome
-4
;
EXT1
;
Lange
r-Giedion
syndrome
;
RAD21
;
TRPS1
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2015
5.
De
letion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling
Cornelia
de
Lange
syndrome
作者:
Martine Isabel Boyle
;
Cathrine Jespersgaard
;
Lusine Nazaryan
;
Kirstine Ravn
;
Karen Brø
;
ndum-Nielsen
;
Anne-Marie Bisgaard
;
Zeynep Tü
;
mer
;
Zeynep.tumer@regionh.dk" class="auth_mail" title="E-mail the corresponding author
关键词:
ADHD
;
attention
de
ficit hyperactivity disor
de
r
;
CDCA5
;
cell division cycle-associated protein 5
;
CDG
;
congenital disor
de
r of glycosylation
;
CdLS
;
Cornelia
de
Lange
syndrome
;
GERD
;
gastroesophageal reflux disease
;
HDAC8
;
histone
de
acetylase 8
;
HRAS
;
v-ha-ras harvey rat sarcoma viral oncogene homolog
;
HRASLS2
;
HRAS-like tumor suppressor 2
;
HRASLS3
;
HRAS-like tumor suppressor 5
;
HRASLS5
;
HRAS-like tumor suppressor 5
;
LGALS12
;
lectin
;
galactosi
de
-binding
;
soluble
;
12
;
MEN1
;
multiple endocrine neopla
刊名:Gene
出版年:2015
6.
Ventilation tube insertion is not effective to the treatment of hearing impairment in pediatric patients with
Cornelia
de
Lange
syndrome
作者:
Jinsei Jung
;
MD
a
;
Sera Park
;
MD
b
;
Sung Huhn Kim
;
MD
a
;
In Seok Moon
;
MD
a
;
Kyu Rin Hwang
;
MD
a
;
Jeon Mi Lee
;
MD
a
;
Mi Young Bang
;
AuD
a
;
Jae Young Choi
;
MD
a
;
jychoi@yuhs.ac" class="auth_mail" title="E-mail the corresponding author
刊名:American Journal of Otolaryngology
出版年:2016
7.
Gene regulation and chromatin organization: relevance of cohesin mutations to human disease
作者:
Erwan Watrin
1
;
2
;
Frank J Kaiser
3
;
Kerstin S Wendt
4
;
k.wendt@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author
刊名:Current Opinion in Genetics &
De
velopment
出版年:2016
8.
A 6-year-old boy with
Cornelia
de
Lange
syndrome
and Coats disease: case report and review of the literature
作者:
Andrew W. Stacey
;
MD
;
MS
a
;
andrewstacey@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Cristina Sparagna
;
MD
b
;
Melissa Borri
;
MD
b
;
Stanislao Rizzo
;
MD
c
;
Theodora Hadjistilianou
;
MD
b
刊名:Journal of American Association for Pediatric Ophthalmology and Strabismus
出版年:2015
9.
Double-Lumen Aortic Arch: Persistence of the Fifth Aortic Arch
作者:
Phillip S. Naimo
;
MD
a
;
b
;
c
;
Maria
de
l Carmen Vazquez-Alvarez
;
MD
a
;
b
;
Yves d&rsquo
;
U
de
kem
;
MD
;
PhD
a
;
b
;
c
;
Bryn Jones
;
MBBS
a
;
b
;
c
;
Igor E. Konstantinov
;
MD
;
PhD
a
;
b
;
c
;
igor.konstantinov@rch.org.au" class="auth_mail" title="E-mail the corresponding author
刊名:The Annals of Thoracic Surgery
出版年:2016
10.
Novel SMC1A frameshift mutations in children with
de
velopmental
de
lay and epilepsy
作者:
Jessica H.R. Goldstein
a
;
1
;
Thipwimol Tim-aroon
b
;
1
;
Joseph Shieh
c
;
Michelle Merrill
b
;
Kristin K.
De
eb
d
;
Shulin Zhang
d
;
Nancy E. Bass
a
;
Jirair K. Bedoyan
b
;
jirair.bedoyan@uhhospitals.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Cornelia
de
Lange
syndrome
;
SMC1A
;
Status epilepticus
;
Whole exome sequencing
刊名:European Journal of Medical Genetics
出版年:2015
1
2
3
4
5
6
7
8
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