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SpringerLink电子期刊(14)
Elsevier电子期刊(24)
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:小于0.01 秒
在所有数据库中总计命中:
38
条
1.
Monosomy
1p36
- A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities
作者:
Eve Õ
;
iglane-Shlik
a
;
b
;
h
;
eve.oiglane-slik@kliinikum.ee" class="auth_mail
;
eveo@online.ee" class="auth_mail
;
Sanna Puusepp
c
;
h
;
Inga Talvik
a
;
b
;
Ulvi Vaher
b
;
Reet Rein
b
;
Pille Tammur
d
;
Tiia Reimand
a
;
d
;
e
;
Rita Teek
a
;
d
;
Olga 沤ilina
d
;
f
;
Tiiu Tomberg
g
;
Katrin Õ
;
unap
a
;
d
关键词:
1p36
deletion
;
White matter abnormalities
;
Epileptic encephalopathy
;
Sleep myoclonus
;
Skeletal anomalies
;
Haemangioma
刊名:European Journal of Paediatric Neurology
出版年:May 2014
2.
576 kb deletion in
1p36
.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy
作者:
Xin Zhu
;
Yi Zhang
;
Jian Wang
;
Jin-Fu Yang
;
Yi-Feng Yang
;
Zhi-Ping Tan
关键词:
CNV
;
copy number variation
;
CHD
;
congenital heart defects
;
SNP
;
single nucleotide polymorphism
;
PCR
;
polymerase chain reaction
;
CT
;
computed tomography
;
OMIM
;
Online Mendelian Inheritance in Man
;
Hg19
;
human genome 19
;
ASD
;
atrial septal defect
;
DGV
;
Data
刊名:Gene
出版年:2013
3.
Fine Mapping of the
1p36
Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
作者:
Anne-Karin Arndt
;
Sebastian Schafer
;
Jorg-Detlef Drenckhahn
;
M.?Khaled Sabeh
;
Eva?R. Plovie
;
Almuth Caliebe
;
Eva Klopocki
;
Gabriel Musso
;
Andreas?A. Werdich
;
Hermann Kalwa
;
Matthias Heinig
;
Robert?F. Padera
;
Katharina Wassilew
;
Julia Bluhm
;
Christine Harnack
;
Janine Martitz
;
Paul?J. Barton
;
Matthias Greutmann
;
Felix Berger
;
Norbert Hubner
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
4.
Chromosome
1p36
Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
cpc_mmh@yahoo.com
;
Ming Chen
g
;
h
;
i
;
j
;
Yi-Ning Su
k
;
Chin-Yuan Hsu
a
;
Fuu-Jen Tsai
d
;
l
;
m
;
Schu-Rern Chern
b
;
Pei-Chen Wu
a
;
Chen-Chi Lee
a
;
Wayseen Wang
b
;
n
关键词:
chromosome 1
;
chromosome
1p36
deletion syndrome
;
chromosome 20
;
monosomy
1p36
;
prenatal diagnosis
;
ultrasound
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2010
5.
Severe lysosomal storage disease of liver in del(1)(p36): A new presentation
作者:
Motti Haimi
a
;
mottiha@clalit.org.il"" rel=""nofollow
;
Theodore C. Iancu
c
;
d
;
Lisa G. Shaffer
e
;
Aaron Lerner
b
;
d
关键词:
Liver
;
Monosomy
1p36
;
Lipolysosomes
;
Lipid storage disease
;
Hyperphagia
刊名:European Journal of Medical Genetics
出版年:2011
6.
Monosomy1p36
.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia
作者:
Maria Descartes
;
MD
a
;
mdescart@uab.edu
;
Fady M. Mikhail
;
MD
;
PhD
a
;
Judith C. Franklin
;
MSN
a
;
Tony M. McGrath
;
MD
b
;
Martina Bebin
;
MD
;
MPA
c
刊名:Pediatric Neurology
出版年:2011
7.
Monosomy
1p36
uncovers a role for OX40 in survival of activated CD4+ T cells
作者:
M.M. Suhoski
;
E.E. Perez
;
M.L. Heltzer
;
A. Laney
;
L.G. Shaffer
;
S. Saitta
;
S. Nachman
;
N.B. Spinner
;
C.H. June
;
J.S. Orange
关键词:
OX40
;
4-1BB
;
TNFRSF superfamily
;
1p36
;
T cell memory
;
Primary immunodeficiency
;
Subtelomeric deletion
刊名:Clinical Immunology
出版年:2008
8.
Left-ventricular non-compaction in a patient with
monosomy
1p36
作者:
Bernard Thienpont
;
Luc Mertens
;
Gunnar Buyse
;
Joris R. Vermeesch
;
Koen Devriendt
关键词:
Left-ventricular non-compaction
;
Monosomy
1p36
;
Array-CGH
刊名:European Journal of Medical Genetics
出版年:2007
9.
Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion
1p36
than previously expected
作者:
Kirsten Cremer
;
Hermann-Josef Lü
;
decke
;
Frauke Ruhr
;
Dagmar Wieczorek
关键词:
Left-ventricular non-compaction
;
LVNC
;
Monosomy
1p36
;
1p36
deletion syndrome
刊名:European Journal of Medical Genetics
出版年:2008
10.
Multiple meningioma with different grades of malignancy: Case report with genetic analysis applying single-nucleotide polymorphism array and classical cytogenetics
作者:
Kristin Mocker
;
Heidrun Holl
;
Peter Ahnert
;
Ralf Schober
;
Manfred Bauer
;
Holger Kirsten
;
Ronald Koschny
;
Jü
;
rgen Meixensberger
;
Wolfgang Krupp
关键词:
Multiple meningioma
;
Cytogenetics
;
Uniparental disomy
刊名:Pathology - Research and Practice
出版年:2011
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