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
在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:小于0.01 秒
1.
Cryptic genomic imbalances in de novo
作者:
Caroline Schluth-Bolard
;
Bruno Delobel
;
Damien Sanlaville
;
Odile Boute
;
Jean-Marie Cuisset
;
Sylvie Sukno
;
Audrey Labalme
;
Bé
;
né
;
dicte
Duban
-
Bedu
;
Ghislaine Plessis
;
Sylvie Jaillard
;
Christè
;
le Dubourg
;
Catherine Henry
;
Josette Lucas
;
Sylvie Odent
;
Laurent Pasquier
;
Henri Copin
;
Philippe
关键词:
Array CGH
;
Apparently balanced translocations
;
Abnormal phenotype
刊名:European Journal of Medical Genetics
出版年:2009
2.
Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features
作者:
Teresinha Leal
;
Joris Andrieux
;
Bé
;
né
;
dicte
Duban
-
Bedu
;
Sonia Bouquillon
;
Georges-Marie Breviè
;
re
;
Bruno Delobel
关键词:
19q13.32 deletion
;
Mental retardation
;
Cleft lip and palate
;
Tetralogy of fallot
;
Deafness
;
Array-CGH
刊名:European Journal of Medical Genetics
出版年:2009
3.
Characterization by array-CGH of an interstitial de novo
作者:
Joris Andrieux
;
Steven Richebourg
;
Bé
;
né
;
dicte
Duban
-
Bedu
;
Florence Petit
;
Fré
;
dé
;
ric Leprê
;
tre
;
Sylvie Sukno
;
Marie-Bertille Dehouck
;
Bruno Delobel
关键词:
6p21p22 duplication
;
Array-CGH
;
Epilepsy
刊名:European Journal of Medical Genetics
出版年:2008
4.
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis
作者:
Joris Andrieux
;
Jean-Christophe Cuvellier
;
Bé
;
né
;
dicte
Duban
-
Bedu
;
Sylvie Joriot-Chekaf
;
Anne Dieux-Coeslier
;
Sylvie Manouvrier-Hanu
;
Bruno Delobel
;
Louis Vallee
关键词:
Array-CGH
;
1qter Deletion
;
18pter Duplication
;
Microcephaly
;
Simplified gyral pattern
;
Vermis hypoplasia
;
Corpus callosum agenesis
;
AKT3
刊名:European Journal of Medical Genetics
出版年:2008
1
按检索点细分(4)
作者(4)
按出版年细分(4)
2009年(2)
2008年(2)
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
.