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Elsevier电子期刊(118)
在“
Elsevier电子期刊
”中,
命中:
118
条,耗时:0.0229893 秒
在所有数据库中总计命中:
118
条
1.
Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry
作者:
Chih-Ping Chen
;
Ming Chen
;
Chen-Yu Chen
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Shun-Ping Chang
;
Yu-Ling Kuo
;
Wen-Lin Chen
;
Chen-Wen Pan
;
Wayseen
Wang
关键词:
aCGH
;
array comparative genomic hybridization
;
NT
;
nuchal translucency
;
t
;
translocation
;
MoM
;
multiples of the median
;
尾-hCG
;
尾-human chorionic gonadotrophin
;
dn
;
de novo
;
PAPP-A
;
pregnancy-associated plasma protein-A
;
der
;
derivative chromosome
;
dup
;
duplication
;
FISH
;
fluorescence in situ hybridization
;
SKY
;
spectral karyotyping
;
OMIM
;
Online Mendelian Inheritance in Man
;
TGF-尾
;
transforming growth factor-尾
刊名:Gene
出版年:25 February, 2014
2.
Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation
作者:
Chih-Ping Chen
;
Shuan-Pei Lin
;
Schu-Rern Chern
;
Yu-Ling Kuo
;
Peih-Shan Wu
;
Yu-Ting Chen
;
Meng-Shan Lee
;
Wayseen
Wang
关键词:
aCGH
;
array comparative genomic hybridization
;
FSH
;
follicle stimulating hormone
;
LH
;
luteinizing hormone
;
E2
;
estradiol
;
del
;
deletion
;
der
;
derivative chromosome
;
dup
;
duplication
;
t
;
translocation
;
OMIM
;
Online Mendelian Inheritance in Man
;
FISH
;
fluorescence in situ hybridization
;
BAC
;
bacterial artificial chromosome
刊名:Gene
出版年:1 February, 2014
3.
Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family
作者:
Chih-Ping Chen
;
Shuenn-Dyh Chang
;
Tzu-Hao
Wang
;
Liang-Kai
Wang
;
Jeng-Daw Tsai
;
Yu-Peng Liu
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Yu-Ting Chen
;
Wayseen
Wang
关键词:
17q12 microdeletion
;
HNF1B
;
hydronephrosis
;
LHX1
;
multicystic kidney
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:December, 2013
4.
3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: Prenatal diagnosis and aCGH characterization
作者:
Chih-Ping Chen
;
Chen-Ju Lin
;
Yi-Yung Chen
;
Liang-Kai
Wang
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Li-Feng Chen
;
Dai-Dyi Town
;
Chen-Wen Pan
;
Wayseen
Wang
关键词:
aCGH
;
array comparative genomic hybridization
;
NT
;
nuchal translucency
;
del
;
deletion
;
MoM
;
multiples of the median
;
¦Â-hCG
;
¦Â-human chorionic gonadotropin
;
dn
;
de novo
;
PAPP-A
;
pregnancy-associated plasma protein-A
;
der
;
derivative chromosome
;
dup
;
dupl
刊名:Gene
出版年:2013
5.
Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review
作者:
Chih-Ping Chen
;
Tung-Yao Chang
;
Wan-Yuo Guo
;
Pei-Chen Wu
;
Liang-Kai
Wang
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Yu-Ting Chen
;
Li-Feng Chen
;
Wayseen
Wang
关键词:
MDLS
;
Miller&ndash
;
Dieker lissencephaly syndrome
;
OMIM
;
Online Mendelian Inheritance in Man
;
CNS
;
central nervous system
;
IUGR
;
intrauterine growth restriction
;
del
;
deletion
;
MRI
;
magnetic resonance imaging
;
aCGH
;
array comparative genomic hybridization
刊名:Gene
出版年:2013
6.
Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2¡úp14)
作者:
Chih-Ping Chen
;
Meng-Ju Lee
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Yu-Ting Chen
;
Meng-Shan Lee
;
Wayseen
Wang
关键词:
aCGH
;
array comparative genomic hybridization
;
OMIM
;
Online Mendelian Inheritance in Man
;
QF-PCR
;
quantitative fluorescent polymerase chain reaction
;
WHS
;
Wolf-Hirschhorn syndrome
;
del
;
deletion
;
FISH
;
fluorescence in situ hybridization
;
BAC
;
bacterial ar
刊名:Gene
出版年:2013
7.
Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect
作者:
Chih-Ping Chen
;
Ming-Chao Huang
;
Yi-Yung Chen
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Yu-Ting Chen
;
Jun-Wei Su
;
Wayseen
Wang
关键词:
aCGH
;
array comparative genomic hybridization
;
BAC
;
bacterial artificial chromosome
;
FISH
;
fluorescence in situ hybridization
;
OMIM
;
Online Mendelian Inheritance in Man
;
QF-PCR
;
quantitative fluorescent polymerase chain reaction
;
del
;
deletion
;
NCBI
;
Nati
刊名:Gene
出版年:2013
8.
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
9.
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
10.
Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review
作者:
Chih-Ping Chen
;
Ming Chen
;
Yi-Ning Su
;
Jian-Pei Huang
;
Schu-Rern Chern
;
Peih-Shan Wu
;
Jun-Wei Su
;
Shun-Ping Chang
;
Yu-Ting Chen
;
Chen-Chi Lee
;
Li-Feng Chen
;
Chen-Wen Pan
;
Wayseen
Wang
关键词:
OMIM
;
Online Mendelian Inheritance in Man
;
sSMC
;
small supernumerary marker chromosome
;
aCGH
;
array comparative genomic hybridization
;
FISH
;
fluorescence in situ hybridization
;
del
;
deletion
;
der
;
derivative chromosome
;
r
;
ring chromosome
;
mar
;
marker chr
刊名:Gene
出版年:2013
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按检索点细分(118)
作者(118)
按出版年细分(118)
2027年及以后(9)
2013年(23)
2012年(21)
2011年(4)
2010年(22)
2009年(13)
2008年(9)
2007年(5)
2006年(2)
2005年(1)
2003年(1)
2002年(1)
2001年(1)
2000年(1)
2000年及以前(5)
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