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内部出版物
Wiley电子期刊(8)
SpringerLink电子期刊(261)
Elsevier电子期刊(317)
ACS电子期刊(12)
在“
Elsevier电子期刊
”中,
命中:
317
条,耗时:0.0129602 秒
在所有数据库中总计命中:
598
条
1.
Exploring the selectivity of auto-inducer complex with LuxR using molecular docking,
mutational
studies and molecular dynamics simulations
作者:
Sundaraj Rajamanikandan
a
;
Pappu Srinivasan
b
;
sri.bioinformatics@gmail.com
关键词:
Vibrio harveyi
;
LuxR
;
Molecular docking
;
Molecular dynamics simulations
;
Binding free energy
;
Structure based virtual
screening
刊名:Journal of Molecular Structure
出版年:2017
2.
Whole mitochondrial genome
screening
of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241 T > G mutation
作者:
Mouna Tabebi
a
;
mounamouna62@yahoo.fr
;
Nadia Charfi
c
;
Fakhri Kallabi
a
;
Olfa Alila-Fersi
a
;
Afif Ben Mahmoud
a
;
Abdelaziz Tlili
d
;
Leila Keskes-Ammar
a
;
Hassen Kamoun
a
;
Mohamed Abid
c
;
Mouna Mnif
c
;
Faiza Fakhfakh
a
;
b
;
faiza.fakhfakh02@gmail.com
关键词:
Mitochondrial inherited diabetes and deafness
;
Retinopathy
;
Family
;
Mitochondrial DNA mutation
;
Haplotype
刊名:Journal of Diabetes and its Complications
出版年:2017
3.
SMARCB1/INI1-deficient sinonasal carcinoma shows methylation of RASSF1 gene: A clinicopathological, immunohistochemical and molecular genetic study of a recently described entity
作者:
Jan Laco
a
;
lacoj@lfhk.cuni.cz
;
Marcela Chmelařová
;
b
;
Hana Vo&scaron
;
miková
;
a
;
Kateřina Sieglová
;
a
;
Ivana Bubancová
;
b
;
Pavel Dundr
c
;
Kristý
;
na Němejcová
;
c
;
Jaroslav Michá
;
lek
d
;
Petr Čelakovský
;
e
;
Radovan Mottl
f
;
Igor Sirá
;
k
g
;
Milan Vo&scaron
;
mik
g
;
Ale&scaron
;
Ry&scaron
;
ka
a
关键词:
Sinonasal tract
;
Squamous cell carcinoma
;
SMARCB1/INI1
;
RASSF1
;
Rhabdoid
;
DNA methylation
刊名:Pathology - Research and Practice
出版年:2017
4.
First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss
作者:
Walid AL-Achkar
;
ascientific14@aec.org.sy
;
Bassel AL-Halabi
;
Bashar Ali
;
Faten Moassass
关键词:
Non- syndromic hearing loss (NSHL)
;
GJB2
;
IVS1+1G>
A ;
GJB6
;
Syrian
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2017
5.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
作者:
Asbjø
;
rg Stray-Pedersen
;
MD
;
PhD
a
;
b
;
c
;
d
;
e
;
&lowast
;
;
astraype@ous-hf.no
;
Hanne Sø
;
rmo Sorte
;
MS
f
;
g
;
&lowast
;
;
Pubudu Samarakoon
;
MS
f
;
g
;
Tomasz Gambin
;
PhD
a
;
h
;
Ivan K. Chinn
;
MD
b
;
c
;
i
;
Zeynep H. Coban Akdemir
;
PhD
a
;
Hans Christian Erichsen
;
MD
;
PhD
e
;
Lisa R. Forbes
;
MD
b
;
c
;
i
;
Shen Gu
;
PhD
a
;
Bo Yuan
;
PhD
a
;
j
;
Shalini N. Jhangiani
;
MS
a
;
j
;
k
;
Donna M. Muzny
;
MS
a
;
j
;
k
;
Olaug Kristin Rø
;
dningen
;
PhD
f
;
Ying Sheng
;
PhD
f
;
Sarah K. Nicholas
;
MD
;
PhD
b
;
c
;
i
;
Lenora M. Noroski
;
MD
;
MPH
c
;
i
;
Filiz O. Seeborg
;
MD
;
MPH
c
;
i
;
Carla M. Davis
;
MD
c
;
i
;
Debra L. Canter
;
MS
c
;
i
;
Emily M. Mace
;
PhD
b
;
c
;
Timothy J. Vece
;
MD
i
;
Carl E. Allen
;
MD
;
PhD
i
;
l
;
m
;
Harshal A. Abhyankar
;
MS
i
;
l
;
m
;
Philip M. Boone
;
MD
;
PhD
a
;
j
;
Christine R. Beck
;
PhD
a
;
j
;
Wojciech Wiszniewski
;
MD
;
PhD
a
;
j
;
Bø
;
rre Fevang
;
MD
;
PhD
g
;
n
;
På
;
l Aukrust
;
MD
;
PhD
g
;
n
;
Geir E. Tjø
;
nnfjord
;
MD
;
PhD
g
;
o
;
Tobias Gedde-Dahl
;
MD
;
PhD
o
;
Henrik Hjorth-Hansen
;
MD
;
PhD
p
;
q
;
Ingunn Dybedal
;
MD
;
PhD
o
;
Ingvild Nordø
y ;
MD
;
PhD
g
;
n
;
Silje F. Jø
;
rgensen
;
MD
n
;
Tore G. Abrahamsen
;
MD
;
PhD
e
;
g
;
Torstein Ø
;
verland
;
MD
e
;
Anne Grete Bechensteen
;
MD
;
PhD
e
;
Vegard Skogen
;
MD
;
PhD
r
;
Liv T.N. Osnes
;
MD
;
PhD
s
;
Mari Ann Kulseth
;
PhD
f
;
Trine E. Prescott
;
MD
f
;
Cecilie F. Rustad
;
MD
f
;
Ketil R. Heimdal
;
MD
;
PhD
f
;
John W. Belmont
;
MD
;
PhD
j
;
Nicholas L. Rider
;
DO
b
;
c
;
i
;
Javier Chinen
;
MD
;
PhD
c
;
i
;
Tram N. Cao
;
MS
b
;
c
;
i
;
Eric A. Smith
;
BSc
t
;
Maria Soledad Caldirola
;
BSc
u
;
Liliana Bezrodnik
;
MD
u
关键词:
Primary immunodeficiency disease
;
whole-exome sequencing
;
copy number variants
刊名:Journal of Allergy and Clinical Immunology
出版年:2017
6.
Mutational
analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia
作者:
Sarah F. Schubert
a
;
b
;
c
;
Sabine Hoffjan
a
;
c
;
Gabriele Dekomien
a
;
c
;
gabriele.dekomien@rub.de" class="auth_mail" title="E-mail the corresponding author
关键词:
Hereditary spastic paraplegia
;
CYP7B1
;
PNPLA6
;
C19orf12
;
Mutational
analysis
刊名:Molecular and Cellular Probes
出版年:2016
7.
Mutational
screening
in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene
作者:
Marwa Ammar
a
;
Mouna Tabebi
a
;
Lamia Sfaihi
c
;
Olfa Alila-Fersi
b
;
Marwa Maalej
a
;
Rahma Felhi
a
;
Imen Chabchoub
c
;
Leila Keskes
a
;
Mongia Hachicha
c
;
Faiza Fakhfakh
b
;
Emna Mkaouar-Rebai
b
;
emna.mkaouar@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Mitochondrial mutations
;
mtDNA
;
MT-ND1
;
m.3861A >
;
C
;
Hearing loss
刊名:Biochemical and Biophysical Research Communications
出版年:2016
8.
Whole mitochondrial genome
screening
of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy
作者:
M. Tabebi
a
;
mounamouna62@yahoo.fr" class="auth_mail" title="E-mail the corresponding author
;
M. Mnif
b
(Dr)
;
L. Keskes-Ammar
a
(Pr)
;
M. Abid
b
(Pr)
;
F. Fakhfakh
a
(Pr)
刊名:Annales d'Endocrinologie
出版年:2016
9.
A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family
作者:
Santasree Banerjee
a
;
1
;
Yi Dai
b
;
1
;
Shengran Liang
a
;
1
;
Huishuang Chen
a
;
Yanyan Wang
a
;
Lihui Tang
a
;
Jing Wu
a
;
Hui Huang
a
;
huanghui@genomics.cn" class="auth_mail" title="E-mail the corresponding author
关键词:
Mutational
screening
;
Neurofibromatosis type1
;
Next generation sequencing
;
NF1 gene
;
Novel mutation
刊名:Journal of Clinical Neuroscience
出版年:2016
10.
Molecular cytology genotyping of primary and metastatic GI stromal tumors by using a custom two-gene targeted next-generation sequencing panel with therapeutic intent
作者:
Ferga C. Gleeson
;
MD
1
;
;
Sarah E. Kerr
;
MD
2
;
Benjamin R. Kipp
;
MD
2
;
Jesse S. Voss
;
MD
2
;
Douglas M. Minot
;
MD
2
;
Zheng Jin Tu
;
MD
3
;
Michael R. Henry
;
MD
2
;
George Vasmatzis
;
MD
4
;
John C. Cheville
;
MD
4
;
Konstantinos N. Lazaridis
;
MD
1
;
4
;
Michael J. Levy
;
MD
1
关键词:
FFPE
;
formalin-fixed paraffin-embedded
;
KIT
;
mast/stem cell growth factor receptor Kit gene
;
NGS
;
next-generation sequencing
;
PCR
;
polymerase chain reaction
;
PDGFRA
;
platelet-derived growth factor receptor A
;
SDH
;
succinate dehydrogenase
;
WT
;
wild-type (no KIT or PDGFRA somatic mutation detected)
刊名:Gastrointestinal Endoscopy
出版年:2016
1
2
3
4
5
6
7
8
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