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Wiley电子期刊(6)
SpringerLink电子期刊(6)
Elsevier电子期刊(2)
在“
Elsevier电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
14
条
1.
M
utations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dys
m
orphis
m
作者:
Frederike Leonie Har
m
s
1
;
23
;
Katta
M
.
Girisha
2
;
23
;
Andrew A. Hardigan
3
;
4
;
23
;
Fanny Kort&uu
m
l
;
m
1
;
Anju Shukla
2
;
M
alik Alawi
5
;
6
;
7
;
Ashwin Dalal
8
;
Lauren Brady
9
;
M
ark Tarnopolsky
9
;
Lynne
M
. Bird
10
;
11
;
Sophia Ceule
m
ans
11
;
M
artina Bebin
12
;
Kevin
M
. Bowling
3
;
Susan
M
. Hiatt
3
;
Edward J. Lose
13
;
M
ichelle Pri
m
iano
14
;
Wendy K. Chung
14
;
Jane Juusola
15
;
Zeynep C. Akde
m
ir
16
;
M
atthew Bainbridge
17
;
Wu-Lin Charng
16
;
M
argaret Dru
mm
ond-Borg
18
;
M
oha
mm
ad K. Eldo
m
ery
16
;
Ay
m
an W. El-Hattab
19
;
M
oha
mm
ed A.M. Saleh
20
;
Sté
;
phane Bé
;
zieau
21
;
Benja
m
in Cogné
;
21
;
Bertrand Isidor
21
;
22
;
Sé
;
bastien K&uu
m
l
;
ry
21
;
Ja
m
es R. Lupski
16
;
Richard
M
. Myers
3
;
Gregory
M
. Cooper
3
;
gcooper@hudsonalpha.org
;
Kerstin Kutsche
1
;
kkutsche@uke.de
关键词:
EBF3
;
transcription factor
;
intellectual disability
;
develop
m
ental delay
;
de novo
m
utation
;
gene regulation
刊名:The A
m
erican Journal of Hu
m
an Genetics
出版年:2017
2.
Genotype-phenotype spectru
m
of PYCR1-related autoso
m
al recessive cutis laxa
作者:
Aikaterini Di
m
opoulou
;
Bj?rn Fischer
;
Thatjana Gardeitchik
;
Phillipe Schr?ter
;
H¨¹lya Kayserili
;
Claire Schlack
;
Yun Li
;
Jai
m
e Moritz Bru
m
;
Ingeborg Barisic
;
M
arco Castori
;
Christiane Spaich
;
Elaine Fletcher
;
Zeina
M
ahayri
;
M
eenakshi Bhat
;
Katta
M
.
Girisha
;
Katherine Lachlan
;
Diana Johnson
;
Shubha Phadke
;
Neerja Gupta
;
M
artina Si
m
;
lova
;
et al.
关键词:
Autoso
m
al recessive cutis laxa
;
PYCR1
;
Proline
;
M
itochondria
;
Seg
m
ental progeroid disorders
刊名:
M
olecular Genetics and Metabolis
m
出版年:2013
1
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