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在“
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”中,
命中:
14,306
条,耗时:0.0969916 秒
在所有数据库中总计命中:
22,550
条
1.
Novel
and prevalent CYP11B1 gene
mutation
s in Turkish patients with 11-β hydroxylase deficiency
作者:
Nurgun Kandemir
a
;
nurgun.kandemir@gmail.com
;
nkandemi@hacettepe.edu.tr
;
Didem Yucel Yilmaz
b
;
E.Nazli Gonc
a
;
Alev Ozon
a
;
Ayfer Alikasifoglu
a
;
Ali Dursun
b
;
R.Koksal Ozgul
b
关键词:
Congenital adrenal hyperplasia
;
CYP11B1
;
11beta-hydroxylase deficiency
;
CYP11B1
novel
mutation
s
刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:2017
2.
Identification and characterization of the
novel
point
mutation
m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome
作者:
Lidia Carreñ
;
o-Gago
a
;
b
;
Josep Gamez
d
;
Yolanda Cá
;
mara
a
;
b
;
Elena Alvarez de la Campa
c
;
Juan Sebastian Aller-Alvarez
d
;
Dulce Moncho
e
;
Maria Salvado
d
;
Alicia Galan
f
;
Xavier de la Cruz
c
;
g
;
Tomà
;
s Pinó
;
s
a
;
b
;
1
;
Elena Garcí
;
a-Arumí
;
a
;
b
;
h
;
1
;
elena.garcia@vhir.org
关键词:
Novel
mutation
;
mtDNA
;
MT-ND1
;
LHON syndrome
;
Cybrids
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:2017
3.
A
Novel
Founder
Mutation
in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain
作者:
Marí
;
a Sabater-Molina
a
;
mariasm79es@hotmail.com
;
Daniel Saura
b
;
Esperanza Garcí
;
a-Molina Sá
;
ez
a
;
Josefa Gonzá
;
lez-Carrillo
b
;
Luis Polo
c
;
Inmaculada Pé
;
rez-Sá
;
nchez
a
;
Marí
;
a del Carmen Olmo
b
;
Marí
;
a José
;
Oliva-Sandoval
b
;
Roberto Barriales-Villa
d
;
Pablo Carbonell
e
;
Domigo Pascual-Figal
b
;
Juan R. Gimeno
b
关键词:
Cardiomyopathy
;
Hypertrophy
;
MYBPC3
mutation
;
Sudden death
;
Truncated protein
刊名:Revista Española de Cardiología (English Edition)
出版年:2017
4.
A
novel
presenilin 1
mutation
(F388L) identified in a Chinese family with early-onset Alzheimer's disease
作者:
Yihong Zhan
a
;
1
;
Honghua Zheng
b
;
c
;
1
;
honghua@xmu.edu.cn
;
Chen Wang
a
;
1
;
Zhouyi Rong
b
;
Naian Xiao
a
;
Qilin Ma
a
;
qilinma@yeah.net
;
Yun-wu Zhang
b
;
yunzhang@xmu.edu.cn
关键词:
PSEN1
mutation
;
Early-onset Alzheimer's disease
;
Chinese family
刊名:Neurobiology of Aging
出版年:2017
5.
Early cardiac involvement in an infantile Sandhoff disease case with
novel
mutation
s
作者:
Hsiu-Fen Lee
a
;
c
;
1
;
leehf@hotmail.com.tw
;
Ching-Shiang Chi
b
;
c
;
chi-cs@hotmail.com
;
Chi-Ren Tsai
a
;
d
;
1
;
n20248@vghtc.gov.tw
关键词:
Metabolic cardiomyopathy
;
Infantile Sandhoff disease
;
HEXB gene
mutation
;
Cardiac manifestations
;
Neurological features
刊名:Brain and Development
出版年:2017
6.
Novel
cases of Tunisian patients with
mutation
s in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect
作者:
Bochra Ben Rhouma
a
;
bochra.benrhouma@gmail.com
;
Fakhri Kallabi
a
;
Nadia Mahfoudh
b
;
Afif Ben Mahmoud
a
;
Roger T. Engeli
c
;
Hassen Kamoun
d
;
Leila Keskes
a
;
Alex Odermatt
c
;
alex.odermatt@unibas.ch
;
Neila Belguith
a
;
d
关键词:
46
;
XY disorders of sex development
;
17beta-hydroxysteroid dehydrogenase
;
Mutation
;
HSD17B3
;
Founder effect
;
Male sexual development
刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:2017
7.
Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and
novel
missense
mutation
作者:
Taj Ali Khan
a
;
microbiologist63@yahoo.com
;
Humaira Mazhar
a
;
Mehboob Nawaz
a
;
Kalsoom Kalsoom
b
;
Muhammad Ishfaq
c
;
Huma Asif
d
;
Hazir Rahman
a
;
Muhammad Qasim
a
;
Farkhanda Naz
f
;
Mubashir Hussain
a
;
Baharullah Khattak
a
;
Waheed Ullah
e
;
Otavio Cabral-Marques
g
;
Jawad Butt
e
;
Asif Iqbal
d
;
asif.iqbal@butatan.gov.br
关键词:
Glucose-6-phosphate dehydrogenase
;
Coenzyme nicotinamide adenine dinucleotide phosphate
;
Reactive oxygen species
;
Mutation
;
BCG
;
Vaccine
刊名:Microbial Pathogenesis
出版年:2017
8.
Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two
novel
mutation
s 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
;
Genetics
;
PNPLA6
mutation
刊名:European Journal of Medical Genetics
出版年:2017
9.
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
10.
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
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