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(9)
知网期刊论文(2)
在“
SpringerLink电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
在所有数据库中总计命中:
11
条
1.
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study
作者:
Michela
Barbaro
;
Annika Ohlsson
;
Stephan Borte…
关键词:
Newborn screening
;
primary immunodeficiency diseases
;
severe combined immunodeficiency
;
TREC
;
KREC
刊名:Journal of Clinical Immunology
出版年:2017
2.
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
作者:
Michela
Barbaro
(1) (2)
Maire Kotaj?rvi (2) (3)
Pauline Harper (2) (3) (4)
Ylva Floderus (2) (3) (4) (5)
关键词:
Alu
;
mediated deletions
;
Protoporphyrinogen oxidase
;
PPOX
;
VP
;
Variegate porphyria
;
MLPA
刊名:Orphanet Journal of Rare Diseases
出版年:2013
3.
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
作者:
Tiina Robins
;
Christine Bellanne-Chantelot
;
Michela
Barbaro
;
Sylvie Cabrol
;
Anna Wedell and Svetlana Lajic
关键词:
Congenital adrenal hyperplasia (CAH)
;
CYP21
;
21
;
hydroxylase
;
Enzyme assay
;
Mutation
刊名:Journal of Molecular Medicine
出版年:2007
4.
Characterization of novel missense mutations in
CYP21
causing congenital adrenal hyperplasia
作者:
Tiina Robins
;
Christine Bellanne-Chantelot
;
Michela
Barbaro
;
Sylvie Cabrol
;
Anna Wedell and Svetlana Lajic
关键词:
Congenital adrenal hyperplasia (CAH)
;
CYP21
;
21
;
hydroxylase
;
Enzyme assay
;
Mutation
刊名:Journal of Molecular Medicine
出版年:2007
5.
Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias
作者:
Ana Beleza-Meireles (1)
Michela
Barbaro
(1)
Anna Wedell (1)
Virpi T?h?nen (1)
Agneta Nordenskj?ld (1) (2)
刊名:Reproductive Biology and Endocrinology
出版年:2007
1
按检索点细分(5)
作者(5)
按出版年细分(5)
2017年(1)
2013年(1)
2007年(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
.