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在“
Elsevier电子期刊
”中,
命中:
26
条,耗时:小于0.01 秒
1.
A novel TECTA mutation causes
ARNSHL
作者:
Samira Asgharzade
a
;
e
;
Mohammad Amin Tabatabaiefar
b
;
Mohammad Hossein Modarressi
a
;
Mohammad Hossein Ghahremani
a
;
Somayeh Reiisi
c
;
Parisa Tahmasebi
d
;
Fatemeh Abdollahnejad
d
;
Morteza Hashemzadeh Chaleshtori
e
;
mchalesh@yahoo.com
关键词:
TECTA
;
Hearing loss
;
Linkage analysis
;
Mutation
;
Iran
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2017
2.
Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran
作者:
Asieh Haghighat-Nia
a
;
1
;
Azadeh Keivani
a
;
1
;
Zakiye Nadeali
a
;
Esmat Fazel-Najafabadi
a
;
Majid Hosseinzadeh
a
;
b
;
Mansoor Salehi
a
;
c
;
m_salehi@med.mui.ac.ir" class="auth_mail" title="E-mail the corresponding author
关键词:
ARNSHL
;
GJB2 gene
;
GJB6 gene
;
Central Iran
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2015
3.
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
作者:
Amina Bakhchane
a
;
Hicham Charoute
a
;
Halima Nahili
a
;
Rachida Roky
b
;
Hassan Rouba
a
;
Majida Charif
a
;
c
;
d
;
Guy Lenaers
c
;
d
;
1
;
Abdelhamid Barakat
a
;
1
;
hamid.barakat@pasteur.ma" class="auth_mail" title="E-mail the corresponding author
关键词:
ARNSHL
;
autosomal recessive non-syndromic hearing loss
;
DFNA
;
deafness
;
autosomal dominant 36
;
DFNB
;
deafness
;
autosomal recessive
;
ESP
;
Exome Sequencing Project
;
EVS
;
Exome Variant Server
;
GJB2
;
gap junction protein
;
beta 2
;
26
;
kDa
;
LRTOMT
;
leucine rich transmembrane and O-methyltransferase domain containing
;
MT-RNR1
;
Ribosomal RNA
;
Mitochondrial
;
12S
;
PolyPhen
;
Polymorphism Phenotyping
;
SIFT
;
Sorting Intolerant From Tolerant
;
TMC1
;
transmembrane channel-like 1
;
WES
;
Whole-exome sequencing
刊名:Gene
出版年:2015
4.
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran
作者:
Mortaza. J. Bonyadi
a
;
b
;
Jabbarpour@tabrizu.ac.ir" class="auth_mail
;
Nikou Fotouhi
b
;
nku.fotouhi86@gmail.com" class="auth_mail
;
Mohsen Esmaeili
c
;
mesmaiili@yahoo.com" class="auth_mail
关键词:
Prelingual hearing loss
;
ARNSHL
;
GJB2 gene
;
35delG
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:April, 2014
5.
Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3
作者:
Daniz Kooshavar
a
;
b
;
dkooshavar@razi.tums.ac.ir
;
Mohammad Amin Tabatabaiefar
b
;
c
;
tabatabaiefar@gmail.com
;
Effat Farrokhi
b
;
Marziye Abolhasani
b
;
Mohammad-Reza Noori-Daloii
a
;
nooridaloii@sina.tums.ac.ir
;
Morteza Hashemzadeh-Chaleshtori
b
;
mchalesh@skums.ac.ir
;
mchalesh@yahoo.com
关键词:
Cx
;
connexin
;
GJ
;
gap junction
;
HL
;
hearing loss
;
ARNSHL
;
autosomal recessive non-syndromic hearing loss
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2013
6.
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients
作者:
D. Vozzi
a
;
diego.vozzi@burlo.trieste.it" class="auth_mail
;
A. Morgan
b
;
D. Vuckovic
b
;
A. D'Eustacchio
a
;
K. Abdulhadi
c
;
E. Rubinato
a
;
R. Badii
d
;
P. Gasparini
a
;
b
;
G. Girotto
b
关键词:
HHL
;
hereditary hearing loss
;
SHL
;
syndromic hearing loss
;
NSHL
;
non-syndromic hearing loss
;
ARNSHL
;
autosomal recessive non-syndromic hearing loss
;
ADNSHL
;
autosomal dominant non-syndromic hearing loss
;
HLTSP
;
Hearing Loss Targeted Sequencing Panel
;
CCDS
;
Consensus Coding Sequence
;
UTR
;
untranslated region
;
INDELs
;
Small Insertions and Deletions
;
SNVs
;
Single Nucleotides Variations
;
VCF
;
Variant Call Format
;
ESP
;
NHLBI Exome Sequencing Project
;
QUAL
;
quality score
;
OAEs
;
Otoacustic Emissions
;
N
刊名:Gene
出版年:1 June, 2014
7.
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations
作者:
Young Ju Jin
a
;
1
;
Jaehong Park
b
;
1
;
Ah Reum Kim
a
;
Yoon Chan Rah
a
;
Byung Yoon Choi
b
;
choiby@snubh.org" class="auth_mail
关键词:
OTOF
;
DFNB9
;
Auditory neuropathy
;
Auditory dys-synchrony
;
Vertical transmission
;
Isoform
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:July 2014
8.
Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (
ARNSHL
)
作者:
Mortaza Bonyadi
;
;
;
jabbarpour@tabrizu.ac.ir
;
Nikou Fotouhi
;
;
nku_fotouhi86@yahoo.com
;
Mohsen Esmaeili
;
;
mesmaiili@yahoo.com
关键词:
ARNSHL
;
Connexin 26
;
IVS1+1G>
A ;
Iranian Azeri Turkish
;
GJB2
;
Deafness
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2011
9.
Screening of OTOF mutations in Iran: A novel mutation and review
作者:
Nejat Mahdieh
;
Atefeh Shirkav
;
Bahareh Rabbani
;
Mustafa Tekin
;
Bahman Akbari
;
Mohammad Taghi Akbari
;
Sirous Zeinali
关键词:
OTOF
;
ARNSHL
;
Hearing loss
;
Auditory neuropathy
;
Iranian population
;
Synaptopathy and deafness
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2012
10.
Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family
作者:
Khushnooda Ramzan
a
;
kramzan@kfshrc.edu.sa
;
khushnooda@gmail.com
;
Mohammed Al-Owain
b
;
c
;
Rabab Allam
a
;
Amal Berhan
a
;
Gheid Abuharb
d
;
Khalid Taibah
e
;
Faiqa Imtiaz
a
关键词:
HL
;
hearing loss
;
NSHL
;
nonsyndromic hearing loss
;
ARNSHL
;
autosomal recessive hearing loss
;
GJB2 and GJB6
;
genes coding gap junction binding proteins beta 2 and beta 6
;
DFNB
;
autosomal recessive deafness locus
;
GIPC3
;
Homo sapiens GIPC-interacting protei
刊名:Gene
出版年:2013
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