设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
CNKI学位论文(471)
知网期刊论文(101)
在“
Elsevier电子期刊
”中,
命中:
100
条,耗时:小于0.01 秒
在所有数据库中总计命中:
572
条
1.
Molecular cytogenetic characterization of Xp22.32→
pter
deletion
and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Chen-Yu Chen
a
;
g
;
h
;
Schu-Rern Chern
b
;
Peih-Shan Wu
i
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chen-Chi Lee
a
;
Dai-Dyi Town
a
;
Meng-Shan Lee
a
;
Chien-Wen Yang
b
;
Wayseen Wang
b
;
j
关键词:
hypotrophic heart
;
short stature
;
Xp22.32&rarr
;
pter
deletion
;
Xq26.3&rarr
;
qter duplication
;
Yp11.31&rarr
;
pter
deletion
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
2.
Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-
pter
deletion
due to familial balanced rearrangement
作者:
Egle Preiksaitiene
;
egle.preiksaitiene@mf.vu.lt" class="auth_mail" title="E-mail the corresponding author
;
Eglė Benu&scaron
;
ienė
;
Zivile Ciuladaite
;
Vytautas &Scaron
;
liužas
;
Violeta Mik&scaron
;
tienė
;
Vaidutis Kučinskas
关键词:
neural tube defects
;
3q26.1-qter duplication
;
5p13.33-
pter
deletion
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
3.
Prenatal diagnosis of partial monosomy 5p (5p15.1→
pter
) and partial trisomy 7p (7p15.2→
pter
) associated with cystic hygroma, abnormal skull development, and ventriculomegaly
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Liang-Kai Wang
a
;
Schu-Rern Chern
b
;
Peih-Shan Wu
g
;
Kevin Ko
b
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Meng-Shan Lee
a
;
Wayseen Wang
b
;
h
关键词:
cystic hygroma
;
5p
deletion
;
7p duplication
;
prenatal diagnosis
;
ventriculomegaly
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
4.
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→
pter
) and partial trisomy 16q (16q23.1→qter)
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Fung-Yu Hung
g
;
Schu-Rern Chern
b
;
Peih-Shan Wu
h
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chen-Chi Lee
a
;
Wayseen Wang
b
;
i
关键词:
array comparative genomic hybridization
;
3p
deletion
;
16q duplication
;
prenatal diagnosis
;
quantitative fluorescent polymerase chain reaction
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
5.
Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic
deletion
of 17
pter
作者:
Chang-Hun Park
;
Hee-Jin Kim
;
Seung-Tae Lee
;
Jeong Meen Seo
;
Sun-Hee Kim
关键词:
T17P
;
trisomy of the short arm of chromosome 17
;
17
pter
;
17p terminal end
;
SNP
;
single nucleotide polymorphism
;
SMS
;
Smith&ndash
;
Magenis syndrome
;
PMP22
;
peripheral myelin protein 22 gene
;
ISCN
;
International System for Human Cytogenetic Nomenclature
;
FISH
;
fluorescence in situ hybridization
;
RARA
;
retinoic acid receptor
;
alpha gene
;
MLPA
;
multiplex ligation-dependent probe amplification
;
TP53
;
tumor protein p53 gene
;
RPH3AL
;
rabphilin 3A-like (without C2 domains) gene
;
DOC2B
;
double C2 beta gen
刊名:Gene
出版年:10 March, 2014
6.
Molecular cytogenetic characterization of 2p23.2p23.3
deletion
in a child with developmental delay, hypotonia and cryptorchism
作者:
Maria Santa Rocca
;
roccams1@gmail.com
;
Flavio Faletra
;
Raffaella Devescovi
;
Paolo Gasparini
;
Vanna Pecile
关键词:
Deletion
2p23
;
SNP array
;
DTNB
;
Cryptorchidism
刊名:European Journal of Medical Genetics
出版年:2013
7.
Chromosome 20p inverted duplication
deletion
identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features
作者:
Objoon Trachoo
a
;
objoon.tra@mahidol.ac.th
;
Montira Assanatham
a
;
Natini Jinawath
b
;
c
;
Arkom Nongnuch
a
关键词:
Chromosome 20
;
Inverted duplication
;
Deletion
;
Mental retardation
;
Obesity
;
Thai
刊名:European Journal of Medical Genetics
出版年:2013
8.
De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1?¡ú?
pter
) and 14q (14q32.31?¡ú?qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: Prenatal d
作者:
Chih-Ping Chen
;
Chung-Hu Fu
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Chen-Chi Lee
;
Meng-Shan Lee
;
Wayseen Wang
关键词:
5p
deletion
;
14q
deletion
;
microcephaly
;
nuchal edema
;
single umbilical artery
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2013
9.
Dysmorphic features in subtelomeric 20p13
deletion
excluding JAG1: A recognizable micro
deletion
phenotype?
作者:
Sé
;
bastien Moutton
a
;
sebastien.moutton@chu-bordeaux.fr
;
sebastienmoutton@hotmail.fr
;
Caroline Rooryck
a
;
b
;
Jé
;
rô
;
me Toutain
a
;
Dorothé
;
e Cailley
a
;
Julie Bouron
a
;
Fré
;
dé
;
ric Villega
c
;
Emmanuelle Taupiac
a
;
Didier Lacombe
a
;
b
;
Benoî
;
t Arveiler
a
;
b
;
Cyril Goizet
a
;
b
关键词:
Terminal
deletion
20p
;
Del 20p13 &rarr
;
pter
;
20p13
;
20
pter
;
Microarray
;
Comparative genomic hybridization
;
Array-CGH
;
44K array-CGH
;
Chromosome anomaly
刊名:European Journal of Medical Genetics
出版年:2012
10.
Pure partial monosomy 3p (3p25.3?¡ú?
pter
): Prenatal diagnosis and array comparative genomic hybridization characterization
作者:
Chih-Ping Chen
;
Yi-Ning Su
;
Chen-Yu Chen
;
Jun-Wei Su
;
Schu-Rern Chern
;
Dai-Dyi Town
;
Wayseen Wang
关键词:
3p
deletion
syndrome
;
CHL1
;
CNTN4
;
CRBN
;
ITPR1
;
LRRN1
;
mental retardation
;
monosomy 3p
;
prenatal diagnosis
;
SRGAP3
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2012
1
2
3
4
5
6
7
8
9
按检索点细分(100)
题名(10)
关键词(6)
文摘(87)
按出版年细分(100)
2016年(4)
2013年(7)
2012年(11)
2011年(4)
2010年(8)
2009年(4)
2008年(3)
2007年(7)
2006年(8)
2005年(8)
2004年(4)
2002年(1)
2001年(4)
2000年(8)
2000年及以前(19)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.