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Wiley电子期刊(5)
SpringerLink电子期刊(74)
Elsevier电子期刊(93)
在“
Elsevier电子期刊
”中,
命中:
93
条,耗时:0.0219891 秒
在所有数据库中总计命中:
172
条
1.
Temple syndrome: A patient with
maternal
hetero-UPD14, mixed iso- and hetero-
disomy
detected by SNP microarray typing of patient-father duos
作者:
Eun-hye Shin
a
;
Eunhae Cho
b
;
Cha Gon Lee
a
;
leechagon@eulji.ac.kr" class="auth_mail" title="E-mail the corresponding author
关键词:
Uniparental
disomy
;
Uniparental
hetero
disomy
;
Maternal
;
Chromosome 14
;
Temple syndrome
;
SNP microarray
刊名:Brain and Development
出版年:2016
2.
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
3.
Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review
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
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Peih-Shan Wu
g
;
Dai-Dyi Town
a
;
Chen-Wen Pan
a
;
Chien-Wen Yang
b
;
Wayseen Wang
b
;
h
关键词:
amniocentesis
;
mosaicism
;
mosaic trisomy 17
;
prenatal diagnosis
;
trisomy 17
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
4.
Angelman syndrome in Hong Kong Chinese: A 20 years’ experience
作者:
H.M. Luk
;
luksite@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Ivan F.M. Lo
关键词:
Angelman syndrome
;
Chinese
;
Genotype-phenotype characteristics
刊名:European Journal of Medical Genetics
出版年:2016
5.
Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Sheng Chiang
g
;
h
;
Kung-Liahng Wang
g
;
h
;
i
;
Fu-Nan Cho
j
;
Ming Chen
k
;
l
;
m
;
Schu-Rern Chern
b
;
Peih-Shan Wu
n
;
Yen-Ni Chen
a
;
Shin-Wen Chen
a
;
Shun-Ping Chang
k
;
l
;
Weu-Lin Chen
a
;
Wayseen Wang
b
;
o
关键词:
amniocentesis
;
duplication of 17q11.1-q11.2
;
small supernumerary marker chromosome 17
;
sSMC17
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
6.
Genetic analysis results of mature cystic teratomas of the ovary in Taiwan disagree with the previous origin theory of this tumor
作者:
Wen-Chung Wang
;
MD
;
MS
a
;
Yen-Chein Lai
;
PhD
b
;
yenchein@csmu.edu.tw" class="auth_mail" title="E-mail the corresponding author
关键词:
Mature cystic teratoma
;
Short tandem repeat analysis
;
Multiplex ligation-dependent probe amplification analysis
;
Meiosis
;
Parthenogenesis
刊名:Human Pathology
出版年:2016
7.
Maternal
uniparental
disomy
of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome
作者:
D.T. Papadimitriou
a
;
i
;
info@pedoendo.gr" class="auth_mail" title="E-mail the corresponding author
;
E. Manolakos
f
;
g
;
C. Bothou
h
;
G. Zoupanos
b
;
I. Papoulidis
f
;
S. Orru
g
;
F. Skarmoutsos
d
;
A. Delides
e
;
C. Bakoula
c
;
A. Papadimitriou
i
;
F. Urano
j
刊名:Diabetes & Metabolism
出版年:2015
8.
Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Schu-Rern Chern
b
;
Yen-Ni Chen
a
;
Peih-Shan Wu
g
;
Chien-Wen Yang
b
;
Li-Feng Chen
a
;
Wayseen Wang
b
;
h
关键词:
amniocentesis
;
mosaicism
;
mosaic trisomy 15
;
trisomy 15
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2015
9.
A novel homozygous mutation of GJC2 derived from
maternal
uniparental
disomy
in a female patient with Pelizaeus-Merzbacher-like disease
作者:
Keiko Shimojima
a
;
Ryuta Tanaka
b
;
Shino Shimada
a
;
c
;
Noriko Sangu
a
;
d
;
Junko Nakayama
e
;
Nobuaki Iwasaki
e
;
Toshiyuki Yamamoto
a
;
yamamoto.toshiyuki@twmu.ac.jp
关键词:
Pelizaeus&ndash
;
Merzbacher-like disease
;
GJC2 (GJA12)
;
Mutation
;
Uniparental
disomy
(UPD)
;
SNP genotyping microarray
;
Loss-of-heterozygosity (LOH)
刊名:Journal of the Neurological Sciences
出版年:2013
10.
Maternal
uniparental
disomy
of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
作者:
Coralie Haudry
a
;
Pascale de Lonlay
a
;
b
;
c
;
Valerie Malan
a
;
b
;
c
;
Christine Bole-Feysot
d
;
Zahra Assouline
a
;
Solenn Pruvost
d
;
Anais Brassier
a
;
b
;
Jean-Paul Bonnefont
a
;
b
;
c
;
Arnold Munnich
a
;
b
;
c
;
Agnè
;
s Rö
;
tig
b
;
c
;
Anne-Sophie Lebre
a
;
b
;
c
;
anne-sophie.lebre@nck.aphp.fr
关键词:
matUPD2
;
maternal
uniparental
disomy
of chromosome 2
;
MLPA
;
Multiplex ligation-dependent probe amplification
;
AOH
;
absence of heterozygosity
;
dGK
;
Deoxyguanosine kinase
;
mtDNA
;
mitochondrial DNA
;
MRI
;
Magnetic resonance imaging
;
MRS
;
Magnetic resonance sp
刊名:Molecular Genetics and Metabolism
出版年:2012
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