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CNKI学位论文(13)
知网期刊论文(27)
在“
Elsevier电子期刊
”中,
命中:
826
条,耗时:0.0109953 秒
在所有数据库中总计命中:
40
条
1.
A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal
uniparental
isodisomy
of chromosome 1
作者:
Yo Niida
a
;
niida@kanazawa-med.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
Ayano Yokoi
b
;
Mondo Kuroda
b
;
Yusuke Mitani
b
;
Hiroyasu Nakagawa
b
;
Mamoru Ozaki
c
关键词:
Infantile neuronal ceroid lipofuscinosis
;
CLN1
;
PPT1
;
DNA microarray
;
SNP array
;
Uniparental
isodisomy
刊名:Brain and Development
出版年:2016
2.
Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder
作者:
James J.H. Rucker
a
;
e
;
james.rucker@kcl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Katherine E. Tansey
a
;
c
;
Margarita Rivera
a
;
p
;
Dalila Pinto
b
;
q
;
Sarah Cohen-Woods
a
;
Rudolf Uher
a
;
h
;
Katherine J. Aitchison
a
;
n
;
Nick Craddock
c
;
Michael J. Owen
c
;
Lisa Jones
o
;
Ian Jones
c
;
Ania Korszun
f
;
Michael R. Barnes
d
;
Martin Preisig
g
;
Ole Mors
m
;
Wolfgang Maier
i
;
John Rice
j
;
Marcella Rietschel
k
;
Florian Holsboer
l
;
Anne E. Farmer
a
;
e
;
Ian W. Craig
a
;
Stephen W. Scherer
b
;
r
;
Peter McGuffin
a
;
e
;
Gerome Breen
a
;
e
关键词:
Affective disorders
;
Copy number variation
;
Depression
;
Genetics
;
Phenotypes
刊名:Biological Psychiatry
出版年:2016
3.
Perinatal hypophosphatasia caused by
uniparental
isodisomy
作者:
Atsushi Watanabe
;
Shuhei Satoh
;
Atsushi Fujita
;
Banyar Than Naing
;
Hideo Orimo
;
Takashi Shimada
关键词:
Hypophosphatasia (HPP)
;
Liver/bone/kidney alkaline phosphatase gene (ALPL)
;
Loss of heterozygosity (LOH)
;
Perinatal HPP
;
Uniparental
isodisomy
(UPD)
刊名:Bone
出版年:March, 2014
4.
Uniparental
disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental
uniparental
isodisomy
in general populations
作者:
Kensaku Sasaki
a
;
nell2gene@yahoo.co.jp
;
Hiroyuki Mishima
a
;
hmishima@nagasaki-u.ac.jp
;
Kiyonori Miura
b
;
kiyonori@nagasaki-u.ac.jp
;
Koh-ichiro Yoshiura
a
;
kyoshi@nagasaki-u.ac.jp
关键词:
DSBs
;
double strand breaks
;
HR
;
homologous recombination
;
NHEJ
;
non-homologous end joining
;
UPD
;
uniparental
disomy
;
hUPD
;
uniparental
heterodisomy
;
iUPD
;
uniparental
isodisomy
;
NGS
;
next-generation sequencing
;
WGS
;
whole-genome sequencing
;
LCLs
;
lymphobl
刊名:Gene
出版年:2013
5.
Uniparental
disomy in the human blastocyst is exceedingly rare
作者:
Ndeye-Aicha Gueye
;
Batsal Devkota
;
Deanne Taylor
;
Rolph Pfundt
;
Richard T. Scott Jr.
;
Nathan R. Treff
关键词:
Comprehensive chromosome screening
;
preimplantation genetic diagnosis
;
SNP microarray
;
uniparental
disomy
刊名:Fertility and Sterility
出版年:January, 2014
6.
Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal
uniparental
heterodisomy with segmental
isodisomy
of a chromosome 22
作者:
Yu-Hsiu Huang
;
Chang-Long Tai
;
Yung-Hsiu Lu
;
Tina Jui-Ting Wu
;
Hong-Duo Chen
;
Dau-Ming Niu
关键词:
Recessive congenital methemoglobinemia
;
Uniparental
disomy
;
NADH-cytochrome b5 reductase
;
CYB5R3 gene
;
Microsatellite genotyping
刊名:Blood Cells, Molecules, and Diseases
出版年:2012
7.
Morquio A syndrome due to Maternal
Uniparental
Isodisomy
of the telomeric end of chromosome 16
作者:
S. Catarzi
a
;
b
;
L. Giunti
c
;
F. Papadia
d
;
O. Gabrielli
e
;
R. Guerrini
a
;
M.A. Donati
a
;
M. Genuardi
c
;
f
;
g
;
A. Morrone
a
;
b
;
neuromet@meyer.it
关键词:
MPS IVA
;
Morquio A syndrome
;
Chromosome 16
;
Uniparental
disomy
;
UPD
;
GALNS
刊名:Molecular Genetics and Metabolism
出版年:2012
8.
Identification of maternal
uniparental
isodisomy
of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
作者:
C茅lia Nogueira
;
Jorge Sales Marques
;
Claudia Nesti
;
Luisa Azevedo
;
Martina Di Lullo
;
M. Chiara Meschini
;
Antonio Orlacchio
;
Filippo M. Santorelli
;
Laura Vilarinho
关键词:
C10orf2
;
MDS
;
Uniparental
disomy
;
Chromosome 10
;
Twinkle
刊名:Molecular Genetics and Metabolism
出版年:December, 2013
9.
Somatic
Uniparental
Isodisomy
Explains Multifocality of Glomuvenous Malformations
作者:
Mustapha Amyere
1
;
8
;
Virginie Aerts
1
;
8
;
Pascal Brouillard
1
;
8
;
Brendan A.S. McIntyre
1
;
Franç
;
ois P. Duhoux
2
;
Michel Wassef
3
;
Odile Enjolras
4
;
9
;
John B. Mulliken
5
;
Olivier Devuyst
6
;
Hé
;
lè
;
ne Antoine-Poirel
2
;
Laurence M. Boon
1
;
7
;
Miikka Vikkula
1
;
2
;
7
;
miikka.vikkula@uclouvain.be
刊名:The American Journal of Human Genetics
出版年:2013
10.
Maternal
Uniparental
Isodisomy
of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction
作者:
Susanne Roosing
;
BSc
1
;
2
;
3
;
L. Ingeborgh van den Born
;
MD
;
PhD
4
;
Carel B. Hoyng
;
MD
;
PhD
5
;
Alberta A.H.J. Thiadens
;
MD
;
PhD
6
;
Elfride de Baere
;
MD
;
PhD
8
;
Rob W.J. Collin
;
PhD
1
;
2
;
3
;
Robert K. Koenekoop
;
MD
;
PhD
9
;
Bart P. Leroy
;
MD
;
PhD
10
;
11
;
Norka van Moll-Ramirez
;
MD
12
;
Hanka Venselaar
;
PhD
1
;
13
;
Frans C.C. Riemslag
;
PhD
4
;
14
;
Frans P.M. Cremers
;
PhD
1
;
2
;
Caroline C.W. Klaver
;
MD
;
PhD
6
;
7
;
Anneke I. den Hollander
;
PhD
1
;
2
;
3
;
5
;
a.denhollander@ohk.umcn.nl
刊名:Ophthalmology
出版年:2013
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