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Springer电子图书(1)
CNKI学位论文(1027)
知网期刊论文(627)
在“
Elsevier电子期刊
”中,
命中:
2,561
条,耗时:0.0330137 秒
在所有数据库中总计命中:
1,655
条
1.
Autosomal
recessive
spinocerebellar ataxia 20: Report of a new patient and review of literature
作者:
Anju Shukla
a
;
Priyanka Upadhyai
a
;
Jhanvi Shah
a
;
K. Neethukrishna
a
;
Stephanie Bielas
b
;
K.M. Girisha
a
;
girish.katta@manipal.edu
关键词:
Autosomal
recessive
spinocerebellar ataxia 20
;
Hereditary ataxia
;
SNX14
;
Autophagy
;
Cerebellar atrophy
刊名:European Journal of Medical Genetics
出版年:2017
2.
Mutations in ATP6V1E1 or ATP6V1A Cause
Autosomal
-
Recessive
Cutis Laxa
作者:
Tim Van Damme
1
;
25
;
Thatjana Gardeitchik
2
;
3
;
25
;
Miski Mohamed
2
;
25
;
Sergio Guerrero-Castillo
4
;
5
;
26
;
Peter Freisinger
6
;
26
;
Brecht Guillemyn
1
;
26
;
Ariana Kariminejad
7
;
26
;
Daisy Dalloyaux
2
;
5
;
Sanne van Kraaij
2
;
5
;
Dirk J. Lefeber
5
;
8
;
Delfien Syx
1
;
Wouter Steyaert
1
;
Riet De Rycke
9
;
10
;
Alexander Hoischen
3
;
Erik-Jan Kamsteeg
3
;
Sunnie Y. Wong
11
;
Monique van Scherpenzeel
5
;
8
;
Payman Jamali
12
;
Ulrich Brandt
4
;
5
;
Leo Nijtmans
4
;
5
;
G. Christoph Korenke
13
;
Brian H.Y. Chung
14
;
Christopher C.Y. Mak
14
;
Ingrid Hausser
15
;
Uwe Kornak
16
;
17
;
Bjö
;
rn Fischer-Zirnsak
16
;
17
;
Tim M. Strom
18
;
Thomas Meitinger
18
;
Yasemin Alanay
19
;
Gulen E. Utine
20
;
Peter K.C. Leung
14
;
Siavash Ghaderi-Sohi
7
;
Paul Coucke
1
;
Sofie Symoens
1
;
Anne De Paepe
1
;
Christian Thiel
21
;
Tobias B. Haack
18
;
22
;
23
;
Fransiska Malfait
1
;
27
;
Eva Morava
11
;
24
;
27
;
Bert Callewaert
1
;
27
;
bert.callewaert@ugent.be
;
Ron A. Wevers
5
;
27
;
ron.wevers@radboudumc.nl
关键词:
V-ATPase
;
ATP6V1E1
;
ATP6V1A
;
cutis laxa
;
autosomal
recessive
;
ARCL2
;
congenital
disorder
of glycosylation
;
CDG
;
Golgi apparatus
;
cellular trafficking
刊名:The American Journal of Human Genetics
出版年:2017
3.
Large Intragenic Deletion in DSTYK Underlies
Autosomal
-
Recessive
Complicated Spastic Paraparesis, SPG23
作者:
John Y.W. Lee
1
;
Chao-Kai Hsu
2
;
3
;
25
;
Magdalene Michael
4
;
25
;
Arti Nanda
5
;
25
;
Lu Liu
6
;
James R. McMillan
6
;
Celine Pourreyron
7
;
Takuya Takeichi
1
;
8
;
Jakub Tolar
9
;
10
;
Evan Reid
11
;
12
;
Thomas Hayday
4
;
Sergiu C. Blumen
13
;
14
;
Saif Abu-Mouch
15
;
Rachel Straussberg
16
;
17
;
Lina Basel-Vanagaite
17
;
18
;
19
;
20
;
Yael Barhum
21
;
22
;
Yasmin Zouabi
16
;
Hejab Al-Ajmi
5
;
Hsin-Yu Huang
2
;
Ting-Chien Lin
2
;
Masashi Akiyama
8
;
Julia Y.Y. Lee
2
;
W.H. Irwin McLean
23
;
Michael A. Simpson
24
;
Maddy Parsons
4
;
John A. McGrath
1
;
23
;
john.mcgrath@kcl.ac.uk
刊名:The American Journal of Human Genetics
出版年:2017
4.
New developments in prenatal diagnosis of congenital adrenal hyperplasia
作者:
Diya Kazmi
1
;
Jack Bailey
1
;
Maggie Yau
;
Wahid Abu-Amer
;
Ameet Kumar
;
Merly Low
;
Tony Yuen
;
tony.yuen@mssm.edu
关键词:
Next generation sequencing
;
Targeted massively parallel sequencing
;
Noninvasive prenatal testing
;
NIPT
;
Autosomal
recessive
disorder
s
刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:2017
5.
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption
作者:
Rongbao Zhao
a
;
b
;
Srinivas Aluri
a
;
b
;
I. David Goldman
a
;
b
;
i.david.goldman@einstein.yu.edu
关键词:
Proton-coupled folate transporter
;
PCFT
;
SLC46A1
;
Reduced folate carrier
;
RFC
;
SLC19A1
;
Folate receptors
;
FRα
;
Folates
;
Folic acid
;
Methotrexate
;
Pemetrexed
;
Hereditary folate malabsorption
;
HFM
;
Cerebral folate deficiency
;
CFD
刊名:Molecular Aspects of Medicine
出版年:2017
6.
Cockayne syndrome: Clinical features, model systems and pathways
作者:
Ajoy C. Karikkineth
a
;
Morten Scheibye-Knudsen
b
;
c
;
Elayne Fivenson
b
;
Deborah L. Croteau
b
;
Vilhelm A. Bohr
b
;
vbohr@nih.gov
关键词:
Cockayne syndrome
;
Progeria
;
Neurodegeneration
;
Mitochondria
;
Transcription
;
Parylation
刊名:Ageing Research Reviews
出版年:2017
7.
Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
作者:
Alan A. Parsa
a
;
aparsa@hawaii.edu
;
Maria I. New
b
关键词:
21 hydroxylase deficiency
;
Congenital adrenal hyperplasia
;
CAH
刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:2017
8.
Molecular analysis of exon 13 of cystic fibrosis patients in Middle East: High frequency of K710X mutation
作者:
Nasibeh Karimi
a
;
Nasibe.karimi23@gmail.com
;
Reza Alibakhshi
b
;
ralibakhshi@kums.ac.ir
关键词:
CFTR
;
Cystic fibrosis
;
K710X
;
Iran
;
Middle East
刊名:Meta Gene
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.
Familial haemophagocytosis lymphohisticytosis type 3: A case report
作者:
F. Kamoun
a
;
b
;
kamounloukilfatma@yahoo.fr
;
M. Hsairi
a
;
b
;
V. Grandin
c
;
S. Ben Ameur
a
;
b
;
G. De Saint Basile
c
;
d
;
e
;
M. Hachicha
a
;
b
刊名:Archives de Pédiatrie
出版年:2017
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