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
CNKI学位论文(25)
知网期刊论文(9)
在“
Elsevier电子期刊
”中,
命中:
11
条,耗时:小于0.01 秒
在所有数据库中总计命中:
34
条
1.
Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism
作者:
Cintia E. Citterio
;
Liliana C. Rossetti
;
Pierre F. Souchon
;
Cecilia Morales
;
Mathilde Thouvard-Viprey
;
Anne S. Salmon-Musial
;
Pierre L.A. Mauran
;
Martine
Doco
-
Fenzy
;
Rogelio Gonz¨¢lez-Sarmiento
;
Carina M. Rivolta
;
Carlos D. De Brasi
;
H¨¦ctor M. Targovnik
关键词:
Thyroglobulin gene
;
Mutation
;
Inversion
;
Deletion
;
Congenital hypothyroidism
刊名:Molecular and Cellular Endocrinology
出版年:2013
2.
Cleft palate associated with cervico-facial teratoma: Report of two cases and review of the literature
作者:
A. Le Saux
;
M.L. Poli Merol
;
D. Zachar
;
P. Josset
;
S. Pezzettigotta
;
M.
Doco
Fenzy
;
E. Guyot
;
C. Francois-Fiquet
关键词:
Teratoma
;
Epignathus
;
Cleft palate
;
Pierre Robin sequence
;
Paediatric surgery
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2012
3.
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion
作者:
Ksenija Vucurovic
;
Emilie L
;
ais
;
C¨¦cile Delahaigue
;
Julien Eutrope
;
Anouck Schneider
;
Camille Leroy
;
Hamza Kabbaj
;
Jacques Motte
;
Dominique Gaillard
;
Anne-Catherine Roll
;
Martine
Doco
-
Fenzy
关键词:
SHANK3 deletion
;
Bipolar affective disorder
;
22q13 deletion syndrome
;
Dementia onset
;
Dementia of Alzheimer's type
刊名:European Journal of Medical Genetics
出版年:2012
4.
Cleft palate and bilateral congenital cataract: a familial observation: a new syndrome?
作者:
Caroline Fran?ois-Fiquet
;
Olivier Wavreille
;
Marie-Laurence Poli Merol
;
Martine
Doco
-
Fenzy
关键词:
Cleft palate
;
Congenital cataract
;
Genetic syndrome
刊名:British Journal of Oral and Maxillofacial Surgery
出版年:2012
5.
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation
作者:
Martine
Doco
-
Fenzy
;
Emilie L
;
ais
;
Joris Andrieux
;
Anouck Schneider
;
Brigitte Delemer
;
Vé
;
ronique Sulmont
;
Jean-Pierre Melin
;
Dominique Ploton
;
Jessica Thevenard
;
Jean-Claude Monboisse
;
Mohamed Belouadah
;
Francis Lefebvre
;
Anne Durlach
;
Michel Goossens
;
Juliette Albuisson
;
Jacques Motte
;
Dominiqu
关键词:
Dysmorphism
;
Multiple renal cysts
;
Abnormal minora labia
;
Asymmetric lower limbs
;
Mental retardation
;
COL4A4
;
COL4A3
;
TRIP12
刊名:European Journal of Medical Genetics
出版年:2008
6.
Collapsing glomerulopathy in Galloway–Mowat syndrome: A case report and review of the literature
作者:
Hervé
;
Sartelet
;
Christine Pietrement
;
Laure-Hé
;
lè
;
ne Noel
;
Pascal Sabouraud
;
Philippe Birembaut
;
Luc Laurier Oligny
;
Bernard Roussel
;
Martine
Doco
-
Fenzy
关键词:
Galloway–
;
Mowat syndrome
;
Microcephaly
;
Nephrotic syndrome
;
Podocytes
;
Collapsing glomerulopathy
刊名:Pathology - Research and Practice
出版年:2008
7.
Compilation of published comparative genomic hybridization studies
作者:
Struski
;
Sté
;
phanie
;
Doco
-
Fenzy
;
Martine
;
Cornillet-Lefebvre
;
Pascale
刊名:Cancer Genetics and Cytogenetics
出版年:2002
8.
Cytogenetic characterization of chromosomal rearrangement in a human vinblastine-resistant CEM cell line: use of comparative genomic hybridization and fluorescence in situ hybridization
作者:
Struski
;
Stephanie
;
Cornillet-Lefebvre
;
Pascale
;
Doco
-
Fenzy
;
Martine
;
Dufer
;
Jean
;
Ulrich
;
Evelyne
;
et. al.
刊名:Cancer Genetics and Cytogenetics
出版年:2002
9.
Gillespie Syndrome Phenotype With a t(X;11)(p22.32;p12) de novo Translocation
作者:
Dollfus
;
Hé
;
lè
;
ne
;
Joanny-Flinois
;
Olivier
;
Doco
-
Fenzy
;
Martine
;
Veyre
;
Lysiane
;
et. al.
刊名:American Journal of Ophthalmology
出版年:1998
10.
Deletions of Distal 9p Associated with 46,XY Male to Female Sex Reversal: Definition of the Breakpoints at 9p23.3–p24.1
作者:
Veitia
;
Reiner
;
Nunes
;
Manoel
;
Brauner
;
Raja
;
Doco
-
Fenzy
;
Marie
;
Joanny-Flinois
;
Olivier
;
Jaubert
;
Francis
;
et. al.
刊名:Genomics
出版年:1997
1
2
按检索点细分(11)
作者(11)
按出版年细分(11)
2013年(1)
2012年(3)
2008年(2)
2002年(2)
2000年及以前(3)
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
.