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内部出版物
在“
SpringerLink电子期刊
”中,
命中:
45,261
条,耗时:小于0.01 秒
1.
Identification of a Novel Deletion
Mutation
(c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the
CCM1/KRIT1
Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population
作者:
Chenlong Yang
;
Jizong Zhao
;
Bingquan Wu
;
Haohao Zhong…
关键词:
Familial cerebral cavernous malformation
;
DNA sequencing
;
Novel
mutation
;
Deletion
mutation
;
Splice
;
site
mutation
;
CCM1
刊名:Journal of Molecular Neuroscience
出版年:2017
2.
Rare compound heterozygosity involving dominant and recessive
mutation
s of
GJB2
gene in an assortative mating hearing impaired Indian family
作者:
Amritkumar Pavithra
;
Jayasankaran Chandru…
关键词:
GJB2
mutation
s
;
Autosomal dominant
;
Assortative mating
;
p.R184Q
mutation
;
Nonsyndromic hearing loss
;
Triallelic
;
India
;
Compound heterozygosity
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2017
3.
3D clusters of somatic
mutation
s in cancer reveal numerous rare
mutation
s as functional targets
作者:
Jianjiong Gao
;
Matthew T. Chang
;
Hannah C. Johnsen
;
Sizhi Paul Gao…
关键词:
Cancer genomics
;
Driver
mutation
s
;
Protein structures
;
Precision medicine
刊名:Genome Medicine
出版年:2017
4.
Retrospective study of
RAS/PIK3CA/BRAF
tumor
mutation
s as predictors of response to first-line chemotherapy with bevacizumab in metastatic colorectal cancer patients
作者:
Izuma Nakayama
;
Eiji Shinozaki
;
Tomohiro Matsushima
;
Takeru Wakatsuki…
关键词:
RAS
mutation
;
PIK3CA
mutation
;
BRAF
mutation
;
Colorectal cancer
;
bevacizumab
刊名:BMC Cancer
出版年:2017
5.
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease
mutation
s
作者:
Siqi Liang
;
Nathaniel D. Tippens
;
Yaoda Zhou
;
Matthew Mort…
关键词:
iRegNet3D
;
Transcriptional regulation
;
TF
;
DNA interaction network
;
TF
;
TF interaction network
;
Chromatin interaction network
;
Inherited disease
;
Disease
;
associated
mutation
;
Missense
mutation
;
Non
;
coding
mutation
刊名:Genome Biology
出版年:2017
6.
De novo
mutation
al profile in
RB1
clarified using a
mutation
rate modeling algorithm
作者:
Varun Aggarwala
;
Arupa Ganguly
;
Benjamin F. Voight
关键词:
Mutation
Rate
;
Retinoblastoma
;
de novo
mutation
s
;
Variability in
Mutation
Rate
;
Variant Prioritization
刊名:BMC Genomics
出版年:2017
7.
Evaluation of the genetic parameters and
mutation
analysis of 22 STR loci in the central Chinese Han population
作者:
Wang Hongdan
;
Kang Bing
;
Su Ning
;
He Miao…
关键词:
Short tandem repeat (STR)
;
Genetic polymorphisms
;
Mutation
rates
;
PowerPlexTM24 kit
刊名:International Journal of Legal Medicine
出版年:2017
8.
Multiplex assay development and
mutation
rate analysis for 13 RM Y-STRs in Chinese Han population
作者:
Wenqiong Zhang
;
Chao Xiao
;
Jin Yu
;
Tian Wei…
关键词:
Rapidly mutating Y
;
STR
;
Multiplex assay
;
Mutation
;
Lineage differentiation
刊名:International Journal of Legal Medicine
出版年:2017
9.
Nevoid basal cell carcinoma syndrome caused by splicing
mutation
s in the
PTCH1
gene
作者:
Chise Kato
;
Kentaro Fujii
;
Yuto Arai
;
Hiromi Hatsuse
;
Kazuaki Nagao…
关键词:
Nevoid basal cell carcinoma syndrome
;
PTCH1
;
Splicing
mutation
刊名:Familial Cancer
出版年:2017
10.
Association of monoallelic MUTYH
mutation
among Egyptian patients with colorectal cancer
作者:
Afaf Elsaid
;
Rami Elshazli
;
Fatma El-Tarapely
;
Hossam Darwish…
关键词:
Colorectal cancer
;
Genetic
mutation
s
;
MUTYH p.Y179C
;
MUTYH p.G396D
刊名:Familial Cancer
出版年:2017
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