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SpringerLink电子期刊(2)
Elsevier电子期刊(5)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:0.0159917 秒
在所有数据库中总计命中:
7
条
1.
Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-
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 deletion
;
Cornelia de Lange
syndrome
-4
;
EXT1
;
Langer-
Giedion
syndrome
;
RAD21
;
TRPS1
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2015
2.
An interstitial deletion of 8q23.3-q24.22 associated with Langer-
Giedion
syndrome
, Cornelia de Lange
syndrome
and epilepsy
作者:
Chih-Ping Chen
;
Shuan-Pei Lin
;
Yu-Peng Liu
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Yu-Ting Chen
;
Chen-Chi Lee
;
Wayseen Wang
关键词:
aCGH
;
array comparative genomic hybridization
;
OMIM
;
Online Mendelian Inheritance in Man
;
EDS
;
Ehlers&ndash
;
Danlos
syndrome
;
TRPS
;
trichorhinophalangeal
syndrome
;
del
;
deletion
;
LGS
;
Langer&ndash
;
Giedion
syndrome
;
CDLS4
;
Cornelia de Lange
syndrome
-4
;
QF-P
刊名:Gene
出版年:2013
3.
An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-
Giedion
syndrome
in an Asian family
作者:
Byung-Joo Min
;
Jung Min Ko
;
Myung-Eui Seo
;
Jin-Sun Choi
;
Sun Kyung Oh
;
Jane Jeon
;
EunHyun Kim
;
Jennifer E. Moon
;
In Ho Choi
;
Charles Lee
;
Ok-Hwa Kim
;
Tae-Joon Cho
;
Woong-Yang Park
关键词:
Interstitial chromosomal insertion
;
Langer&ndash
;
Giedion
syndrome
(
LGS
)
;
Array comparative genome hybridization (aCGH)
;
Fluorescent in situ hybridization (FISH)
刊名:European Journal of Medical Genetics
出版年:2013
4.
Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma
作者:
Feely
;
Michael G.
;
Boehm
;
Amber K.
;
Bridge
;
Robert S.
;
Krallman
;
Pamela A.
;
Neff
;
James R.
;
et. al.
刊名:Cancer Genetics and Cytogenetics
出版年:2002
5.
A 4-Megabase YAC Contig That Spans the Langer-
Giedion
Syndrome
Region on Human Chromosome 8q24.1: Use in Refining the Location of the Trichorhinophalangeal Syndrome and Multiple Exostoses Genes (TRPS1
作者:
Hou
;
J.
;
Parrish
;
J.
;
Lü
;
decke
;
H.-J.
;
Sapru
;
M.
;
Wang
;
Y.
;
Chen
;
W.
;
Hill
;
A.
;
Siegel-Bartelt
;
J.
;
et. al.
刊名:Genomics
出版年:1995
1
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