搜索页_+Iris+Schrijver

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

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：77条

1.Increased incidence of profound biotinidase deficiency among Hispanic newborns in California

作者：Tina M. Cowan ; Niloufar Neely Kazerouni ; Nilesh Dharajiya ; Fred Lorey ; Marie Roberson ; Christina Hodgkinson ; Iris Schrijver

关键词：Biotinidase deficiency ; BTD ; Newborn screening ; Incidence ; Ethnicity

刊名：Molecular Genetics and Metabolism

出版年：2012

2.Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation

作者：Karen E. Matsukuma ; Franklin M. Mullins ; Lisa Dietz ; James L. Zehnder ; James M. Ford ; Nicolette M. Chun ; Iris Schrijver

关键词：HDGC ; CDH1 ; Gastric cancer ; Mutation ; Splicing

刊名：Human Pathology

出版年：2010

3.The digenic hypothesis unraveled: The GJB6

作者：Juan Rodriguez-Paris ; Iris Schrijver

关键词：Connexin ; Hearing loss ; GJB6 ; Digenic ; Deletion ; GJB2 expression

刊名：Biochemical and Biophysical Research Communications

出版年：2009

4.The role of the cytoskeleton in the formation of gap junctions by Connexin 30

作者：Chunyan Qu ; Phyllis Gardner ; Iris Schrijver

关键词：Gap junction ; Connexin 30 ; Cytoskeleton ; Trafficking ; Stabilization ; Actin ; Microfilament ; Microtubule ; ZO-1

刊名：Experimental Cell Research

出版年：2009

5.Splice variant IVS2-2A>G in the SLC26A5

作者：Rita Teek ; Eneli Oitmaa ; Katrin Kruustük ; Riina Zordania ; Kairit Joost ; Elve Raukas ; Neeme Tõ ; nisson ; Phyllis Gardner ; Iris Schrijver ; Mart Kull ; Katrin Õ ; unap

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2009

6.Proper partial geometries with Singer groups and pseudogeometric partial difference sets

作者：Ka Hin Leung ; Siu Lun Ma ; Bernhard Schmidt

关键词：Partial geometries ; Singer groups ; Partial difference sets ; Goormaghtigh's equation

刊名：Journal of Combinatorial Theory, Series A

出版年：2008

7.T-cell clonality analysis in biopsy specimens from two different skin sites shows high specificity in the diagnosis of patients with suggested mycosis fungoides

作者：Stacy E. Thurber ; Bing Zhang ; Youn H. Kim ; Iris Schrijver ; James Zehnder ; Sabine Kohler

关键词：colon cancer ; angiosarcoma ; malignancy

刊名：Journal of the American Academy of Dermatology

出版年：2007

8.Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis

作者：Maggie L. Naguib ; Iris Schrijver ; Phyllis Gardner ; Lynn M. Pique ; Samiha S. Doss ; Mona A. Abu Zekry ; Mona Aziz ; Samya Z. Nasr

关键词：Cystic fibrosis screening ; CFTR ; Non-Caucasian CF ; CF indicator^TM sweat test system ; CF in Egyptian children

刊名：Journal of Cystic Fibrosis

出版年：2007

9.08:40: Presbycusis: Elucidation of Genetic Contributors with APEX

作者：Joseph B. Roberson Jr ; Charles J. Ballay II ; Juan Rodriguez-Paris ; Michelle M. Inserra ; Tijani Hassan ; Phyllis Gardner ; Katrina R. Stidham ; Iris Schrijver

关键词：Attachment ; Day hospital ; Adolescence ; Limit states

刊名：Otolaryngology - Head and Neck Surgery

出版年：2007

10.Two patients with the V37I/235delC genotype: Are radiographic cochlear anomalies part of the phenotype?

作者：Iris Schrijver ; Kay W. Chang

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2006

按检索点细分(11)

作者(10)

文摘(1)

按出版年细分(11)

2012年(1)

2010年(1)

2009年(3)

2008年(1)

2007年(3)

2006年(1)

2002年(1)