设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
SpringerLink电子期刊(1)
NATURE电子期刊(1)
Elsevier电子期刊(6)
在“
Elsevier电子期刊
”中,
命中:
6
条,耗时:小于0.01 秒
在所有数据库中总计命中:
8
条
1.
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
作者:
Karina Tuz
;
Rux
;
ra Bachmann-Gagescu
;
Diana聽R. O鈥橠ay
;
Kiet Hua
;
Christine聽R. Isabella
;
Ian聽G. Phelps
;
Allan聽E. Stolarski
;
Brian聽J. O鈥橰oak
;
Jennifer聽C. Dempsey
;
Charles Lourenco
;
Abdulrahman Alswaid
;
Carsten聽G. B枚nnemann
;
Livija Medne
;
Sheela Nampoothiri
;
Zornitza
Stark
;
Richard聽J. Leventer
;
Meral Top莽u
;
Ali Cansu
;
Sujatha Jagadeesh
;
Stephen Done
;
Gisele聽E. Ishak
;
et al.
刊名:The American Journal of Human Genetics
出版年:2 January, 2014
2.
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
作者:
Karina Tuz
;
Rux
;
ra Bachmann-Gagescu
;
Diana聽R. O鈥橠ay
;
Kiet Hua
;
Christine聽R. Isabella
;
Ian聽G. Phelps
;
Allan聽E. Stolarski
;
Brian聽J. O鈥橰oak
;
Jennifer聽C. Dempsey
;
Charles Lourenco
;
Abdulrahman Alswaid
;
Carsten聽G. B枚nnemann
;
Livija Medne
;
Sheela Nampoothiri
;
Zornitza
Stark
;
Richard聽J. Leventer
;
Meral Top莽u
;
Ali Cansu
;
Sujatha Jagadeesh
;
Stephen Done
;
Gisele聽E. Ishak
;
et al.
刊名:The American Journal of Human Genetics
出版年:6 February, 2014
3.
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature
作者:
Zornitza
Stark
a
;
zornitza
.
stark
@ghsv.org.au
;
Alessandra Pangrazio
b
;
c
;
George McGillivray
a
;
A. Michelle Fink
d
;
e
关键词:
Osteopetrosis
;
Recessive
;
Brain anomaly
刊名:European Journal of Medical Genetics
出版年:2013
4.
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features
作者:
Zornitza
Stark
;
Damien L. Bruno
;
Hayley Mountford
;
Paul J. Lockhart
;
David J. Amor
关键词:
Attractin
;
ATRNL1
;
autism
;
chromosome deletion
刊名:European Journal of Medical Genetics
出版年:2010
5.
Triad of tracheoesophageal fistula-esophageal atresia, pulmonary hypoplasia, and duodenal atresia
作者:
Zornitza
Stark
;
Neil Patel
;
Tom Clarnette
;
Am
;
a Moody
刊名:Journal of Pediatric Surgery
出版年:2007
6.
Restricted IgG1 subclass of anti-Yo antibodies in paraneoplastic cerebellar degeneration
作者:
Amyes
;
Elisabeth
;
Curnow
;
John
;
Stark
;
Zornitza
;
Corlett
;
Louise
;
Sutton
;
Ian
;
Vincent
;
Angela
关键词:
Paraneoplastic
;
Cerebellar
;
IgG subclass
;
Anti-Yo antibody
刊名:Journal of Neuroimmunology
出版年:2001
1
按检索点细分(6)
作者(6)
按出版年细分(6)
2027年及以后(1)
2013年(1)
2010年(1)
2007年(1)
2001年(1)
2000年及以前(1)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.