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内部出版物
SpringerLink电子期刊(33)
Elsevier电子期刊(99)
ACS电子期刊(2)
在“
SpringerLink电子期刊
”中,
命中:
33
条,耗时:0.0189887 秒
在所有数据库中总计命中:
134
条
1.
Cystic fibrosis: a clinical view
作者:
Carlo Castellani
;
Baroukh M. Assael
关键词:
Cystic fibrosis
;
CFTR
;
Genotype
;
Phenotype
;
Precision medicine
刊名:Cellular and Molecular Life Sciences
出版年:2017
2.
Screening
for cystic fibrosis in New York State: considerations for algorithm improvements
作者:
Denise M. Kay
;
Breanne Maloney
;
Rhonda Hamel…
关键词:
Cystic fibrosis
;
Immunoreactive trypsinogen
;
Newborn
screening
;
CFTR
;
Mutation
analysis
刊名:European Journal of Pediatrics
出版年:2016
3.
Islet-intrinsic effects of
CFTR
mutation
作者:
Fiona N. Manderson Koivula
;
Neville H. McClenaghan
;
Alan G. S. Harper…
刊名:Diabetologia
出版年:2016
4.
Analysis of cystic fibrosis gene
mutation
s in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study
作者:
Domenico Dell’Edera
;
Michele Benedetto
;
Gemma Gadaleta…
关键词:
Cystic fibrosis
;
Cystic fibrosis conductance transmembrane regulator
;
Screening
in infertile couples
;
Mutation
analysis
;
Polymerase Chain Reaction
刊名:Journal of Medical Case Reports
出版年:2014
5.
Cystic Fibrosis: Need for Mass Deployable
Screening
Methods
作者:
Aditya Singh Sengar (1)
Anirudh Agarwal (1)
Manish K. Singh (2)
关键词:
Cystic fibrosis
;
Sweat chloride estimation
;
CFTR
;
Diagnosis
刊名:Applied Biochemistry and Biotechnology
出版年:2014
6.
Hispanic Infants with Cystic Fibrosis Show Low
CFTR
Mutation
Detection Rates in the Illinois Newborn
Screening
Program
作者:
Kimberly Danieli Watts (125) kwatts@childrensmemorial.org
Benjamin Layne (3)
Ann Harris (24)
Susanna A. McColley (12)
关键词:
Health disparities –
;
Genetic epidemiology –
;
Public health –
;
Cystic fibrosis –
;
Newborn
screening
–
;
Lung disease
刊名:Journal of Genetic Counseling
出版年:2012
7.
Early acute pancreatitis in a child with compound heterozygosis ?F508/R1438W/Y1032C cystic fibrosis: a case report
作者:
Salvatore Leonardi (14)
Andrea Domenico Praticò (14)
Novella Rotolo (14)
Giovanna Di Dio (14)
Elena Lionetti (14)
Mario La Rosa (14)
关键词:
Pancreatitis
;
Cystic fibrosis
;
CFTR
;
?F508
;
R1438W and Y1032C
;
Mild phenotype
刊名:Journal of Medical Case Reports
出版年:2013
8.
Subject Review: Pancreatic Ductal Adenocarcinoma in the Setting of
Mutation
s in the Cystic Fibrosis Transmembrane Conductance Regulator Gene: Case Report and Review of the Literature
作者:
David W. Rittenhouse (2)
Vanessa A. Talbott (2)
Zafia Anklesaria (2)
Jonathan R. Brody (2) (3) (4)
Agneszkia K. Witkiewicz (3) (4)
Charles J. Yeo (1) (4)
关键词:
Cystic fibrosis
;
Pancreatic ductal adenocarcinoma
;
W1282X
mutation
刊名:Journal of Gastrointestinal Surgery
出版年:2011
9.
Prospective and parallel assessments of cystic fibrosis newborn
screening
protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
作者:
Veronika Kruli?ová (1)
Miroslava Bala??aková (1)
Veronika Skalická (2)
Tereza Piská?ková (1)
Andrea Holubová (1)
Jana Paděrová (1)
Petra K?enková (1)
Lenka Dvo?áková (1)
Dana Zemková (2)
Petr Kra?mar (3)
Blanka Chovancová (3)
Věra Vávrová (2)
Alexandra ?tambergová (1)
Felix Votava (3)
Milan Macek Jr. (1)
关键词:
Newborn
screening
;
Cystic fibrosis (MIM 219700)
;
Cystic fibrosis transmembrane conductance regulator gene
;
Immunoreactive trypsinogen
;
Pancreatitis
;
associated protein
;
Sweat test
刊名:European Journal of Pediatrics
出版年:2012
10.
Improving test properties for neonatal cystic fibrosis
screening
in the Netherlands before the nationwide start by May 1st 2011
作者:
Martina C. Cornel (1237) MC.Cornel@vumc.nl
Johan J. P. Gille (1)
J. Gerard Loeber (4)
Annette M. M. Vernooij-van Langen (45)
Jeannette Dankert-Roelse (5)
Piet A. Bolhuis (6)
刊名:Journal of Inherited Metabolic Disease
出版年:2012
1
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