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CNKI会议论文(1)
CNKI学位论文(169)
知网期刊论文(519)
在“
SpringerLink电子期刊
”中,
命中:
114
条,耗时:小于0.01 秒
在所有数据库中总计命中:
689
条
1.
Rare compound heterozygosity involving dominant and recessive
mutations
of
GJB2
gene in an assortative mating hearing impaired Indian family
作者:
Amritkumar Pavithra
;
Jayasankaran Chandru…
关键词:
GJB2
mutations
;
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
2.
GJB2
mutations
in deaf population of Ilam (Western Iran): a different pattern of mutation distribution
作者:
Nejat Mahdieh
;
Hamdollah Mahmoudi…
关键词:
GJB2
mutations
;
Ilam population
;
R32H mutation
;
Hearing loss
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2016
3.
Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders
作者:
O. L. Mironovich
;
E. A. Bliznetz
;
T. G. Markova…
关键词:
hearing loss
;
Pendred syndrome
;
enlarged vestibular aqueduct
;
SLC26A4 gene
刊名:Russian Journal of Genetics
出版年:2017
4.
Etiology and associated
GJB2
mutations
in Mauritanian children with non-syndromic hearing loss
作者:
Ely Cheikh Mohamed Moctar
;
Zied Riahi…
关键词:
Hearing loss
;
Children
;
Etiology
;
GJB2
;
Mauritania
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2016
5.
The high frequency of
GJB2
gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population
作者:
Violeta Mikstiene
;
Audrone Jakaitiene
;
Jekaterina Byckova…
关键词:
Non
;
syndromic sensorineural hearing loss
;
GJB2
and GJB6 genes
;
c.313_326del14 mutation
;
p.(Lys105Glyfs*5)
;
Frequency of carriers of
GJB2
gene mutation in the Lithuanian population
刊名:BMC Genetics
出版年:2016
6.
The impact of the sociodemographic structure of deaf people communities on the prevalence of hereditary hearing loss
作者:
O. L. Posukh
;
M. S. Bady-Khoo
;
M. V. Zytsar…
关键词:
hereditary deafness
;
social processes
;
assortative marriages
;
GJB2
(C×26) gene
mutations
;
agentbased modeling
刊名:Russian Journal of Genetics: Applied Research
出版年:2016
7.
TMPRSS3
mutations
in autosomal recessive nonsyndromic hearing loss
作者:
Saba Battelino
;
Gasper Klancar
;
Jernej Kovac…
关键词:
Autosomal recessive nonsyndromic hearing loss
;
Next generation sequencing
;
TMPRSS3
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2016
8.
Bioinformatic Analysis of
GJB2
Gene Missense
Mutations
作者:
Akin Yilmaz
关键词:
GJB2
;
Connexin 26
;
Missense mutation
;
Bioinformatics
刊名:Cell Biochemistry and Biophysics
出版年:2015
9.
Mutations
of
GJB2
encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan
作者:
Midhat Salman
;
Rasheeda Bashir
;
Ayesha Imtiaz…
关键词:
Connexin 26
;
Deafness
;
Hearing loss
;
GJB2
;
Pakistan
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2015
10.
GJB2
as Well as SLC26A4 Gene
Mutations
are Prominent Causes for Congenital Deafness
作者:
Yuan Fang
;
Maosheng Gu
;
Chuanxia Wang
;
Feng Suo…
关键词:
GBJ2
;
GBJ3
;
Congenital hearing loss
;
Mitochondrial 12S rRNA
刊名:Cell Biochemistry and Biophysics
出版年:2015
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