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CNKI学位论文(82)
知网期刊论文(20)
在“
Elsevier电子期刊
”中,
命中:
23
条,耗时:小于0.01 秒
在所有数据库中总计命中:
102
条
1.
IL1RAPL1 gene
deletion
as a cause of X-linked intellectual disability and dysmorphic features
作者:
Erin L. Youngs
a
;
b
;
eyoungs@saint-lukes.org
;
Rebecca Henkhaus
a
;
Jessica A. Hellings
a
;
b
;
Merlin G. Butler
a
;
b
关键词:
X-linked intellectual disability
;
IL1RAPL1
deletion
;
Chromosomal microarray analysis
;
Xp21
.3
deletion
刊名:European Journal of Medical Genetics
出版年:2012
2.
Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries
作者:
Narges Nouri
;
Esmat Fazel-Najafabadi
;
Mahdieh Behnam
;
Nayereh Nouri
;
Omid Aryani
;
Majid Ghasemi
;
Jafar Nasiri
;
Maryam Sedghi
关键词:
DMD
;
Duchenne muscular dystrophy
;
BMD
;
Becker muscular dystrophy
;
MLPA
;
Multiplex Ligation-dependent Probe Amplification
;
SIFT
;
Sorting Intolerant From Tolerant
;
PolyPhen
;
Polymorphism Phenotyping
;
Panther
;
Protein ANalysis THrough Evolutionary Relationships
;
SNAP
;
screening for non-acceptable polymorphisms
;
HSF
;
Human Splicing Finder
;
ESE
;
Exonic Splicing Enhancer
刊名:Gene
出版年:10 February, 2014
3.
Complex management of a patient with a contiguous Xp11.4 gene
deletion
involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases
作者:
Matthew A. Deardorff
;
Himabindu Gaddipati
;
Paige Kaplan
;
Pedro A. Sanchez-Lara
;
Neal Sondheimer
;
Nancy B. Spinner
;
Hakon Hakonarson
;
Can Ficicioglu
;
Jaya Ganesh
;
Thomas Markello
;
Brett Loechelt
;
Dina
关键词:
Ornithine transcarbamylase
;
OTC
;
Xp11.4–
;
Xp21
.1
deletion
;
Granulomatous disease
;
Chronic
;
CGD
;
CGH
;
Copy number analysis
;
Retinitis pigmentosa
;
RP3
;
McLeod syndrome
刊名:Molecular Genetics and Metabolism
出版年:2008
4.
G.P.79 DMD mutation spectrum in 611 unrelated dystrophinopathy families
作者:
J. Juan-Mateu
;
M.J. Fern
;
ez
;
L. Gonzalez-Quereda
;
E. Verdura
;
A. Colomer
;
A. Nascimento
;
M. Baiget
;
P. Gallano
刊名:Neuromuscular Disorders
出版年:2012
5.
Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees
作者:
Nadine
;
Melhem
a
;
Frank
;
Middleton
c
;
Kathryn
;
McFadden
b
;
Lambertus
;
Klei
a
;
Stephen V.
;
Faraone
c
;
Sophia
;
Vinogradov
d
;
Josepha
;
Tiobech
e
;
Victor
;
Yano
e
;
Stevenson
;
Kuartei
e
;
Kathryn
;
Roeder
f
;
William
;
Byerley
d
;
Bernie
;
Devlin
a
;
;
devlinbj@upmc.edu
;
Marina
;
Myles-Worsley
c
关键词:
A2BP1
;
copy number variants (CNVs)
;
IL1RAPL1
;
Palau
;
psychotic disorders
;
schizophrenia
刊名:Biological Psychiatry
出版年:2011
6.
P02-302 - Investigation of mental retardation etiology in romanian children using clinical, cytogenetic and array-CGH diagnostic techniques
作者:
M. Budisteanu
1
;
2
;
A. Arghir
2
;
S.M. Chirieac
2
;
A. Tutulan-Cunita
2
;
C. Burloiu
3
;
C. Iliescu
3
;
D. Craiu
3
;
D. Barca
3
;
B. Budisteanu
4
;
I. Minciu
3
;
S. Magureanu
3
;
A. Lungeanu
2
刊名:European Psychiatry
出版年:2011
7.
P02-302 - Investigation of mental retardation etiology in romanian children using clinical, cytogenetic and array-CGH diagnostic techniques
作者:
M. Budisteanu
1
;
2
;
A. Arghir
2
;
S.M. Chirieac
2
;
A. Tutulan-Cunita
2
;
C. Burloiu
3
;
C. Iliescu
3
;
D. Craiu
3
;
D. Barca
3
;
B. Budisteanu
4
;
I. Minciu
3
;
S. Magureanu
3
;
A. Lungeanu
2
刊名:European Psychiatry
出版年:2011
8.
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing
作者:
Raoul Jean Pierre Bonnal
;
Marco Severgnini
;
Aless
;
ra Castaldi
;
Roberta Bordoni
;
Michele Iacono
;
Amelia Trimarco
;
Annalaura Torella
;
Giulio Piluso
;
Stefania Aurino
;
Gianluigi Condorelli
;
Gianluca De Be
关键词:
454 sequencing
;
Resequencing
;
Long PCR
;
Dystrophin gene
刊名:Analytical Biochemistry
出版年:2010
9.
Insights into extensive
deletion
s around the XK locus associated with McLeod phenotype and characterization of two novel cases
作者:
Jianbin Peng
;
Colvin M. Redman
;
Xu Wu
;
Xiaoling Song
;
Ruth H. Walker
;
Connie M. Westhoff
;
Soohee Lee
关键词:
X-linked disorders
;
Duchenne muscular dystrophy
;
Chronic granulomatous disease
;
Retinitis pigmentosa
;
Ornithine transcarbamylase deficiency
;
Adaptive evolution
刊名:Gene
出版年:2007
10.
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and
Xp21
ge
作者:
Hellerud
;
Christina
;
Adamowicz
;
Maciej
;
Jurkiewicz
;
Dorota
;
Taybert
;
Joanna
;
Kubalska
;
Jolanta
;
et. al.
关键词:
Adrenal hypoplasia
;
Duchenne muscular dystrophy
;
Glycerol kinase deficiency
;
Heterozygote
;
Insertion
;
Mutation
;
RT-PCR
;
Splice junction analysis
;
Splice site
;
Xp21
刊名:Molecular Genetics and Metabolism
出版年:2003
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