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内部出版物
SpringerLink电子期刊(3)
Elsevier电子期刊(7)
在“
Elsevier电子期刊
”中,
命中:
7
条,耗时:0.0150237 秒
在所有数据库中总计命中:
10
条
1.
Molecular cytogenetic characterization of mosaicism 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
;
mosaicism
;
ring
chromosome
8
;
small supernumerary marker
chromosome
8
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
2.
Duplication
of
8q12
encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
作者:
Hong Luo
;
Li Xie
;
Shou-Zheng Wang
;
Jin-Lan Chen
;
Can Huang
;
Jian Wang
;
Jin-Fu Yang
;
Wei-Zhi Zhang
;
Yi-Feng Yang
;
Zhi-Ping Tan
关键词:
CHD7
;
Duplication
8q12
;
SNP array
;
Dosage sensitive gene
;
Copy number variation
;
CNV
;
Congenital heart defect
刊名:European Journal of Medical Genetics
出版年:2012
3.
Prenatal diagnosis and molecular cytogenetic characterization of a derivative
chromosome
der(18;18)(q10;q10)del(18)(q11.1
q12
.1)del(18)(q22.1q22.3) presenting as apparent iso
chromosome
1
8q
in a fetus with holoprosencephaly
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com"" rel=""nofollow
;
Yau-Kun Kuo
g
;
Yi-Ning Su
h
;
Schu-Rern Chern
b
;
Fuu-Jen Tsai
d
;
i
;
j
;
Pei-Chen Wu
a
;
Yu-Ting Chen
b
;
Dai-Dyi Town
a
;
Wayseen Wang
b
;
k
关键词:
1
8q
deletion
;
der(18
;
18)(q10
;
q10)
;
Holoprosencephaly
;
Iso
chromosome
1
8q
;
Monosomy 18p
;
Prenatal diagnosis
;
Trisomy 1
8q
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2011
4.
Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia
作者:
Hsiao-Mei Liao
;
Yu-Lin Chao
;
Ai-Ling Huang
;
Min-Chih Cheng
;
Yann-Jang Chen
;
Kuei-Fang Lee
;
Jye-Siung Fang
;
Chih-Hao Hsu
;
Chia-Hsiang Chen
关键词:
Schizophrenia
;
Copy number variation
;
Genetics
;
Deletion
;
Duplication
;
Rearrangement
刊名:Schizophrenia Research
出版年:2012
5.
A characteristic
syndrome
associated with micro
duplication
of
8q12
, inclusive of CHD7
作者:
Anna M. Lehman
;
Jan M. Friedman
;
David Chai
;
Farah R. Zahir
;
Marco A. Marra
;
Larraine Prisman
;
Erica Tsang
;
Patrice Eydoux
;
Linlea Armstrong
关键词:
Duane retraction
syndrome
;
Congenital abnormalities
;
CHD7 protein
;
Human
;
Cochlear disease
;
Chromosome
disorder
;
Oligonucleotide microarray
刊名:European Journal of Medical Genetics
出版年:2009
6.
A YAC Contig Joining the Desmocollin and Desmoglein Loci on Human
Chromosome
18 and Ordering of the Desmocollin Genes
作者:
Cowley
;
Catherine M. E.
;
Simrak
;
Danijela
;
Marsden
;
Mark D.
;
King
;
Ian A.
;
Arnemann
;
Joachim
;
et. al.
刊名:Genomics
出版年:1997
7.
Molecular characterization of a new urea transporter in the human kidney
作者:
Olivè
s ;
Bernadette
;
Martial
;
Sonia
;
Mattei
;
Marie-Geneviè
;
ve
;
Matassi
;
Giorgio
;
et. al.
关键词:
Urea transport
;
Human kidney
;
Tissue expression
;
Transcription-translation assay
;
In situ hybridization
刊名:FEBS Letters
出版年:1996
1
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