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
Wiley电子期刊(1)
SpringerLink电子期刊(27)
Elsevier电子期刊(48)
在“
Elsevier电子期刊
”中,
命中:
48
条,耗时:0.0189876 秒
在所有数据库中总计命中:
76
条
1.
Molecular cytogenetic characterization of
mosaic
ism for a small supernumerary marker
chromosome
derived from
chromosome
8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com
;
Shuan-Pei Lin
b
;
g
;
h
;
i
;
Yi-Hui Lin
j
;
Schu-Rern Chern
b
;
Peih-Shan Wu
k
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chien-Wen Yang
b
;
Wen-Lin Chen
a
;
Wayseen Wang
b
;
l
关键词:
CHD7
;
chromosome
8q12 duplication syndrome
;
mosaic
ism
;
ring
chromosome
8
;
small supernumerary marker
chromosome
8
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
2.
Molecular cytogenetic characterization of
mosaic
ism for a small supernumerary marker
chromosome
derived from
chromosome
8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com
;
Shuan-Pei Lin
b
;
g
;
h
;
i
;
Schu-Rern Chern
b
;
Peih-Shan Wu
j
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Chien-Wen Yang
b
;
Meng-Shan Lee
a
;
Wayseen Wang
b
;
k
关键词:
attention deficit hyperactivity disorder
;
intellectual disability
;
obesity
;
ring
chromosome
8
;
small supernumerary marker
chromosome
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
3.
PP01.5 - 3005: Clinical and cytogenetic features of 3 cases with
ring
chromosome
20 syndrome
作者:
P. Dimova
a
;
c
;
I. Boneva
b
;
V. Tomov
c
;
D. Deneva
c
;
I. Yordanova
b
;
A. Todorova
b
刊名:European Journal of Paediatric Neurology
出版年:2015
4.
Mosaic
ring
chromosome
21, monosomy 21, and isodicentric
ring
chromosome
21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
g
;
cpc_mmh@yahoo.com
;
Yi-Hui Lin
h
;
Szu-Yuan Chou
h
;
i
;
Yi-Ning Su
j
;
Schu-Rern Chern
c
;
Yu-Ting Chen
c
;
Dai-Dyi Town
b
;
Wen-Lin Chen
b
;
Wayseen Wang
c
;
k
关键词:
21q interstitial deletion
;
21q terminal deletion
;
mosaic
ism
;
prenatal diagnosis
;
ring
chromosome
21
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2012
5.
Prenatal diagnosis and molecular cytogenetic characterization of
mosaic
ring
chromosome
13
作者:
Chih-Ping Chen
;
Chin-Han Tsai
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Chen-Chi Lee
;
Yu-Ting Chen
;
Wen-Lin Chen
;
Li-Feng Chen
;
Wayseen Wang
关键词:
aCGH
;
array comparative genomic hybridization
;
FISH
;
fluorescence in situ hybridization
;
del
;
deletion
;
idic
;
isodicentric
chromosome
;
r
;
ring
chromosome
;
mar
;
marker
chromosome
;
AFP
;
¦Á-fetoprotein
;
¦Â-hCG
;
¦Â-human chorionic gonadotrophin
;
uE3
;
unconjug
刊名:Gene
出版年:2013
6.
Ring
Chromosome
20: A Pediatric Potassium Channelopathy Responsive to Treatment with Ezogabine
作者:
Diana J. Walleigh
;
Agustin Legido
;
Ignacio Valencia
关键词:
ring
chromosome
20
;
epilepsy
;
ezogabine
;
potassium channel openers
刊名:Pediatric Neurology
出版年:November, 2013
7.
Single-Nucleotide Polymorphism Array-Based Characterization of
Ring
Chromosome
18
作者:
Ana Spreiz
;
Roberta S. Guilherme
;
Claudio Castellan
;
Andrew Green
;
Olaf Rittinger
;
Brigitte Wellek
;
Barbara Utermann
;
Martin Erdel
;
Christine Fauth
;
Edda Haberl
t ;
Chong A. Kim
;
Leslie D. Kulikowski
;
Vera A. Meloni
;
Gerd Utermann
;
Johannes Zschocke
;
Maria I. Melaragno
;
Dieter Kotzot
关键词:
OFC
;
Occipitofrontal head circumference
;
r(18)
;
Ring
chromosome
;
SNP
;
Single-nucleotide polymorphism
刊名:The Journal of Pediatrics
出版年:2013
8.
Prenatal diagnosis and molecular cytogenetic characterization of
mosaic
ism for a small supernumerary marker
chromosome
derived from
ring
chromosome
2
作者:
Chih-Ping Chen
;
Ming Chen
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Shun-Ping Chang
;
Dong-Jay Lee
;
Yu-Ting Chen
;
Li-Feng Chen
;
Jun-Wei Su
;
Alan Hwa-Ruey Hsieh
;
Alex Hwa-Jiun Hsieh
;
Wayseen Wang
关键词:
duplication of 2q11.2&rarr
;
q21.2
;
prenatal diagnosis
;
ring
chromosome
2
;
small supernumerary marker
chromosome
2
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2012
9.
Ring
chromosome
21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
g
;
cpc_mmh@yahoo.com
;
Po-Jen Cheng
h
;
Shuenn-Dyh Chang
h
;
Yi-Xuan Lee
h
;
Jin-Chung Shih
i
;
Schu-Rern Chern
c
;
Peih-Shan Wu
j
;
Jun-Wei Su
b
;
k
;
Yu-Ting Chen
b
;
Adam Hwa-Ming Hsieh
l
;
Teresa Hsiao-Tien Chen
m
;
Li-Feng Chen
b
;
Wayseen Wang
c
;
n
关键词:
MoM
;
multiples of the median
;
AFP
;
¦Á-fetoprotein
;
r(21)
;
ring
chromosome
21
;
idic r(21)
;
isodicentric
ring
chromosome
21
;
aCGH
;
array comparative genomic hybridization
;
FISH
;
fluorescence in situ hybridization
;
BAC
;
bacterial artificial
chromosome
;
i(12p
刊名:Gene
出版年:2013
10.
Ring
chromosome
20
作者:
Robert D. Daber
a
;
Laura K. Conlin
a
;
Laura D. Leonard
a
;
Maria P. Canevini
b
;
Aglaia Vignoli
c
;
Syed Hosain
d
;
Lawrence W. Brown
e
;
f
;
Nancy B. Spinner
a
;
f
;
spinner@mail.med.upenn.edu
关键词:
Ring
chromosome
;
Seizures
;
Mosaic
ism
刊名:European Journal of Medical Genetics
出版年:2012
1
2
3
4
5
按检索点细分(48)
题名(17)
关键词(14)
文摘(37)
按出版年细分(48)
2027年及以后(1)
2016年(2)
2015年(1)
2013年(4)
2012年(9)
2011年(6)
2010年(2)
2009年(2)
2008年(5)
2007年(5)
2006年(1)
2005年(1)
2004年(2)
2002年(2)
2001年(2)
2000年及以前(3)
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
.