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内部出版物
Wiley电子期刊(7)
NATURE电子期刊(7)
ACS电子期刊(11)
SpringerLink电子期刊(707)
Elsevier电子期刊(1751)
在“
Elsevier电子期刊
”中,
命中:
1,751
条,耗时:小于0.01 秒
在所有数据库中总计命中:
2,483
条
1.
A homozygous
intron
ic branch-point
deletion
in the ALPL gene causes infantile hypophosphatasia
作者:
Birgit Mentrup
a
;
b-mentrup.klh@uni-wuerzburg.de
;
Hermann Girschick
b
;
Franz Jakob
a
;
Christine Hofmann
c
关键词:
Hypophosphatasia
;
Alkaline phosphatase
;
Intron
deletion
;
Splicing
;
Branch-point
;
Transcript variant
刊名:Bone
出版年:2017
2.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations,
deletion
and genomic amplification affecting DPD activity and mRNA splicing
作者:
André
;
B.P. van Kuilenburg
a
;
a.b.vankuilenburg@amc.uva.nl
;
Judith Meijer
a
;
Dirk Maurer
b
;
Doreen Dobritzsch
b
;
Rutger Meinsma
a
;
Maartje Los
c
;
Lia C. Knegt
a
;
Lida Zoetekouw
a
;
Rob L.H. Jansen
d
;
Vincent Dezentjé
;
e
;
Lieke H. van Huis-Tanja
f
;
Roel J.W. van Kampen
g
;
Jens Michael Hertz
h
;
Raoul C.M. Hennekam
a
关键词:
Dihydropyrimidine dehydrogenase
;
DPYD
;
5-Fluorouracil
;
Capecitabine
;
Pharmacogenetics
;
Toxicity
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:2017
3.
Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort
作者:
Hsien-Han Lin
a
;
Ruey-Meei Wu
b
;
Han-I. Lin
b
;
Meng-Ling Chen
b
;
Chun-Hwei Tai
b
;
Chin-Hsien Lin
b
;
chlin@ntu.edu.tw
关键词:
Parkinson's disease
;
RAB38B
;
Ras-related protein
;
Taiwanese
;
Chinese
刊名:Neurobiology of Aging
出版年:2017
4.
Utilizing modified ubi1
intron
s to enhance exogenous gene expression in maize (Zea mays L.) and rice (Oryza sativa L.)
作者:
Yang-yang PAN
a
;
*
;
yypan@genetics.ac.cn" class="auth_mail" title="E-mail the corresponding author
;
Rui CHEN
b
;
*
;
chenrui.taas@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Li ZHU
a
;
Hai WANG
a
;
Da-fang HUANG
a
;
Zhi-hong LANG
a
;
langzhihong@caas.cn" class="auth_mail" title="E-mail the corresponding author
关键词:
maize
;
intron
-mediated enhancement
;
ubi1
intron
;
intron
modification
;
IME signals
刊名:Journal of Integrative Agriculture
出版年:2016
5.
A 6-bp
deletion
in exon 8 and two mutations in
intron
s of TYRP1 are associated with blond coat color in Liangshan pigs
作者:
Xiaoqian Wu
a
;
1
;
Yi Zhang
b
;
1
;
Linyuan Shen
a
;
1
;
Jingjing Du
a
;
Jia Luo
a
;
Chendong Liu
a
;
Qiang Pu
a
;
Runlin Yang
c
;
Xuewei Li
a
;
Lin Bai
a
;
Guoqing Tang
a
;
Shunhua Zhang
a
;
zhangsh1919@163.com" class="auth_mail" title="E-mail the corresponding author
;
Li Zhu
a
;
zhuli7508@163.com" class="auth_mail" title="E-mail the corresponding author
关键词:
TYRP1
;
Tyrosinase-related protein 1
;
MC1R
;
Melanocortin receptor 1
;
ASIP
;
Agouti signaling protein
;
Slc7a11
;
family 7 member 11 gene
;
KITLG
;
KIT ligand
;
MLPH
;
melanophilin
;
TYR
;
tyrosinase
;
DCT
;
dopachrome topoisomerase
;
SNP
;
single nucleotide polymorphism
;
DNA
;
deoxyribonucleic acid
;
Leu
;
leucine
;
Ala
;
alanine
;
Arg
;
arginine
;
Pro
;
proline
;
Met
;
methionine
;
Ser
;
serine
;
Val
;
valine
;
Arg
;
arginine
;
Asn
;
asparagine
;
Asp
;
aspartic acid
;
Ile
;
isoleucine
;
Thr
;
threonine
;
Lys
;
lysine
;
del
;
deletion
al
刊名:Gene
出版年:2016
6.
AccuCopy quantification combined with pre-amplification of long-distance PCR for fast analysis of
intron
22 inversion in haemophilia A
作者:
Qianlan Ding
a
;
Xi Wu
a
;
Yeling Lu
a
;
Changming Chen
b
;
Rui Shen
c
;
Xi Zhang
c
;
Zhengwen Jiang
c
;
zhengwenj@geneskies.com" class="auth_mail" title="E-mail the corresponding author
;
Xuefeng Wang
a
;
wangxuefeng6336@hotmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
HA
;
haemophilia A
;
F8
;
factor VIII gene
;
Inv22
;
intron
22 inversion
;
LD-PCR
;
long-distance-PCR
;
IS-PCR
;
inverse shifting-PCR
;
Del22
;
int22h-mediated
deletion
;
Dup22
;
int22h-mediated duplication
;
PLP
;
pre-amplification of LD-PCR
;
AQ-PLP
;
AccuCopy quantification combined with pre-amplification of long-distance PCR
;
CNV
;
copy number variation
;
LOD
;
limit of detection
刊名:Clinica Chimica Acta
出版年:2016
7.
Allelic variation on DcAOX1 gene in carrot (Daucus carota L.): An interesting simple sequence repeat in a highly variable
intron
作者:
Amaia Nogales
;
Tâ
;
nia Nobre
;
Helia G. Cardoso
;
Luz Muñ
;
oz-Sanhueza
1
;
Vera Valadas
;
Maria Doroteia Campos
;
Birgit Arnholdt-Schmitt
;
eu_chair@uevora.pt" class="auth_mail" title="E-mail the corresponding author
关键词:
AOX
;
alternative oxidase
;
SNP
;
single nucleotide polymorphism
;
nsSNP
;
non-synonymous single nucleotide polymorphism
;
InDel
;
insertion-
deletion
;
SSR
;
simple sequence repeats
;
FM
;
functional marker
;
mTP
;
mitochondrial targeting protein
;
CWR
;
crop wild relatives
刊名:Plant Gene
出版年:2016
8.
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations
作者:
Claudio Rabacchi
;
PhD
a
;
Federico Bigazzi
;
PhD
b
;
Mariarita Puntoni
;
PhD
b
;
Francesco Sbrana
;
MD
b
;
Tiziana Sampietro
;
MD
b
;
Patrizia Tarugi
;
PhD
a
;
Stefano Bertolini
;
MD
c
;
stefbert@unige.it" class="auth_mail" title="E-mail the corresponding author
;
Sebastiano Calandra
;
MD
d
;
sebcal@unimore.it" class="auth_mail" title="E-mail the corresponding author
关键词:
Homozygous familial hypercholesterolemia
;
LDL cholesterol
;
LDLR gene
;
APOB gene
;
Missense mutations
;
In-frame
deletion
刊名:Journal of Clinical Lipidology
出版年:2016
9.
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of
intron
breakpoints hot spots with STR abundance in DMD gene
作者:
Leonela N. Luce
a
;
1
;
leonelaluce@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Viviana Dalamon
b
;
Marcela Ferrer
c
;
Diana Parma
a
;
1
;
Irene Szijan
a
;
1
;
Florencia Giliberto
a
;
1
关键词:
BMD
;
Becker Muscular Dystrophy
;
CVS
;
Chorionic Villus Sample
;
DMD
;
Duchenne Muscular Dystrophy
;
MLPA
;
Multiplex Ligation-dependent Probe Amplification
;
PCR
;
Polymerase Chain Reaction
;
STR
;
Short Tandem-Repeat
;
XLDC
;
X-linked Dilated Cardiomiopathy
刊名:Journal of the Neurological Sciences
出版年:2016
10.
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations
作者:
Ruifang Wang
1
;
Yongguo Yu
1
;
Jun Ye
;
Lianshu Han
;
Wenjuan Qiu
;
Huiwen Zhang
;
Lili Liang
;
Zhuwen Gong
;
Lili Wang
;
Xuefan Gu
;
gu_xuefan@163.com" class="auth_mail" title="E-mail the corresponding author
关键词:
CAH
;
congenital adrenal hyperplasia
;
21-OHD
;
21-hydroxylase deficiency
;
CYP21A2
;
cytochrome P450
;
family 21
;
subfamily A
;
polypeptide 2
;
MLPA
;
multiplex ligation-dependent probe amplification
;
SW
;
salt-wasting
;
SV
;
simple virilizing
;
NC
;
nonclassical
;
CYP21A1P
;
cytochrome P450
;
family 21
;
subfamily A
;
polypeptide 1 pseudogene
;
HGMD
;
Human Gene Mutation database
;
17-OHP
;
17-hydroxyprogesterone
;
I2G
;
the
intron
2 splice site mutation
;
ppv
;
positive predictive value
;
Del
;
large gene
deletion
s
;
ACTH
刊名:Steroids
出版年:2016
1
2
3
4
5
6
7
8
9
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