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GSW全文库(4)
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CNKI期刊论文0611(61)
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CNKI学位论文(30652)
知网期刊论文(21306)
在“
Elsevier电子期刊
”中,
命中:
16,334
条,耗时:0.0569446 秒
在所有数据库中总计命中:
52,068
条
1.
Applying Cystic Fibrosis Transmembrane Conductance Regulator
Genetic
s and CFTR2 Data to Facilitate Diagnoses
作者:
Patrick R. Sosnay
;
MD
1
;
Danieli B. Salinas
;
MD
2
;
Terry B. White
;
PhD
3
;
Clement L. Ren
;
MD
4
;
Philip M. Farrell
;
MD
;
PhD
5
;
Karen S. Raraigh
;
MGC
6
;
Emmanuelle Girodon
;
MD
7
;
Carlo Castellani
;
MD
8
关键词:
CFTR
genetic
testing
;
CFTR
mutations
;
CFTR-related disorder
;
cystic fibrosis
;
genotype
;
genotype-phenotype correlation mutation
;
MVCC
;
penetrance
;
variant
刊名:The Journal of Pediatrics
出版年:2017
2.
Whole genome sequencing of mouse lymphoma L5178Y-3.7.2C (TK
+/−
) reveals millions of
mutations
and
genetic
markers
作者:
Page B. McKinzie
;
1
;
Page.McKinzie@fda.hhs.gov
;
Javier R. Revollo
;
1
;
Javier.Revollo@fda.hhs.gov
关键词:
Next generation sequencing
;
Genetic
s
;
SNPs
刊名:Mutation Research/
Genetic
Toxicology and Environmental Mutagenesis
出版年:2017
3.
Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel
mutations
in PNPLA6
作者:
Jakob H. Langdahl
a
;
d
;
jakob.hoegild.langdahl@rsyd.dk
;
Anja L. Frederiksen
b
;
d
;
Nina Nguyen
c
;
Klaus Brusgaard
b
;
d
;
Claus B. Juhl
a
关键词:
Hypogonadism
;
Spinocerebellar ataxias
;
Retinal dystrophies
;
Phospholipases
;
Genetic
s
;
PNPLA6 mutation
刊名:European Journal of Medical
Genetic
s
出版年:2017
4.
Congenital myasthenic syndrome in Israel:
Genetic
and clinical characterization
作者:
Sharon Aharoni
a
;
b
;
aharonis@zahav.net.il
;
Menachem Sadeh
b
;
c
;
Yehuda Shapira
d
;
Simon Edvardson
d
;
Muhannad Daana
d
;
Talia Dor-Wollman
d
;
Aviva Mimouni-Bloch
e
;
b
;
Ayelet Halevy
a
;
b
;
Rony Cohen
a
;
b
;
Liora Sagie
f
;
Zohar Argov
g
;
Malcolm Rabie
a
;
b
;
Ronen Spiegel
h
;
Ilana Chervinsky
h
;
Naama Orenstein
i
;
b
;
Andrew G. Engel
j
;
Yoram Nevo
a
;
b
关键词:
Congenital myasthenic syndrome (CMS)
;
Genetic
mutations
;
RAPSN
;
COLQ
;
CHRNE
刊名:Neuromuscular Disorders
出版年:2017
5.
Human teratogens and
genetic
phenocopies. Understanding pathogenesis through human genes mutation
作者:
Matteo Cassina
;
matteo.cassina@unipd.it
;
Giulia A. Cagnoli
;
Daniela Zuccarello
;
Elena Di Gianantonio
;
Maurizio Clementi
关键词:
Teratogen
;
Phenocopy
;
Genetic
s
;
Syndrome
;
Malformation
;
Birth defect
刊名:European Journal of Medical
Genetic
s
出版年:2017
6.
Recent advancements in the molecular
genetic
s of left ventricular noncompaction cardiomyopathy
作者:
Xueqi Dong
1
;
xueqidong@hotmail.com
;
Peng Fan
1
;
fanpeng126pumc@126.com
;
Tao Tian
tiantaophd@163.com
;
Yankun Yang
yangyankun66@126.com
;
Yan Xiao
xyzmiss315103@sina.com
;
Kunqi Yang
kunqiyang@126.com
;
Yaxin Liu
;
yaxinliu1978@hotmail.com
;
Xianliang Zhou
;
zhouxianliang0326@hotmail.com
关键词:
Left ventricular noncompaction
;
Genetic
s
;
Noncompaction cardiomyopathy
;
Gene
mutations
刊名:Clinica Chimica Acta
出版年:2017
7.
C9ORF72 and UBQLN2
mutations
are causes of amyotrophic lateral sclerosis in New Zealand: a
genetic
and pathologic study using banked human brain tissue
作者:
Emma L. Scotter
a
;
b
;
emma.scotter@auckland.ac.nz
;
Leon Smyth
a
;
b
;
James W.T. Bailey
c
;
Chun-Hao Wong
c
;
Martina de Majo
c
;
Caroline A. Vance
c
;
Beth J. Synek
d
;
Clinton Turner
d
;
Jennifer Pereira
a
;
e
;
Alison Charleston
e
;
Henry J. Waldvogel
a
;
f
;
Maurice A. Curtis
a
;
f
;
Mike Dragunow
a
;
b
;
Christopher E. Shaw
c
;
Bradley N. Smith
c
;
Richard L.M. Faull
a
;
f
关键词:
Motor neurone disease
;
Amyotrophic lateral sclerosis
;
TARDBP
;
Brain bank
;
C9ORF72
;
Ubiquilin
刊名:Neurobiology of Aging
出版年:2017
8.
Digenic
mutations
involving both the BSND and GJB2 genes detected in Bartter syndrome type IV
作者:
Hong-han Wang
a
;
Yong Feng
b
;
c
;
d
;
Hai-bo Li
e
;
Hong Wu
b
;
Ling-yun Mei
b
;
Xing-wei Wang
b
;
Lu Jiang
b
;
Chu-feng He
b
;
hechufeng2013@163.com
关键词:
Bartter syndrome
;
Sensorineural deafness
;
BSND
;
GJB2
;
Digenic
mutations
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2017
9.
Genetic
instability, CpG island methylator phenotype, and proliferative activity are distinct differences between diminutive and small tubular adenoma of the colorectum
作者:
Yoshiki Nando
;
MD
a
;
Jiro Watari
;
MD
;
PhD
a
;
watarij@hyo-med.ac.jp
;
Chiyomi Ito
;
LA
a
;
Ken Hara
;
MD
;
PhD
a
;
Takahisa Yamasaki
;
MD
;
PhD
a
;
Takuya Okugawa
;
MD
;
PhD
a
;
Takashi Kondo
;
MD
;
PhD
a
;
Tomoaki Kono
;
MD
;
PhD
a
;
Katsuyuki Tozawa
;
MD
;
PhD
a
;
Toshihiko Tomita
;
MD
;
PhD
a
;
Yoshio Ohda
;
MD
;
PhD
a
;
Tadayuki Oshima
;
MD
;
PhD
a
;
Hirokazu Fukui
;
MD
;
PhD
a
;
Nagahide Matsubara
;
MD
;
PhD
b
;
Naohiro Tomita
;
MD
;
PhD
b
;
Seiichi Hirota
;
MD
;
PhD
c
;
Hiroto Miwa
;
MD
;
PhD
a
关键词:
Colorectal tubular adenoma
;
CpG island methylator phenotype
;
Genetic
instability
;
KRAS
;
BRAF
刊名:Human Pathology
出版年:2017
10.
Predicting the pathogenicity of aminoacyl-tRNA synthetase
mutations
作者:
Stephanie N. Oprescu
a
;
Laurie B. Griffin
b
;
c
;
Asim A. Beg
d
;
Anthony Antonellis
a
;
b
;
antonell@umich.edu
关键词:
Aminoacyl-tRNA synthetases
;
Mendelian disease
;
Charcot-Marie-Tooth (CMT) disease
;
Peripheral neuropathy
;
Neurodevelopmental disease
;
Functional evaluation of disease-associated
mutations
刊名:Methods
出版年:2017
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