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Search for publications relevant for "newborn screening (NBS)"
newborn screening (NBS)
Publication
Class
Person
Publication
Programmes
publication
Towards Achieving Equity and Innovation in Newborn Screening across Europe
2022 |
First Faculty of Medicine
publication
Informing Parents about Newborn Screening: A European Comparison Study
2021 |
First Faculty of Medicine
publication
Results of expanded newborn screening in the Czech Republic
2014 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
publication
Pilot newborn screening project for cystic fibrosis in the Czech Republic: Defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease
2009 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance
2012 |
Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Factors Influencing Parental Awareness about Newborn Screening
2019 |
First Faculty of Medicine
publication
Regulatory landscape of providing information on newborn screening to parents across Europe
2021 |
First Faculty of Medicine
publication
Cystic fibrosis newborn screening and CFSPID diagnostics
2019 |
Second Faculty of Medicine
publication
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
2022 |
First Faculty of Medicine
publication
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype
2024 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
2015 |
First Faculty of Medicine
publication
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
2016 |
First Faculty of Medicine
publication
Impact of newborn screening for SCID on the management of congenital athymia
2024 |
Second Faculty of Medicine
publication
Newborn screening for homocystinurias: Recent recommendations versus current practice
2019 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
2012 |
Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Epidemiology of rare diseases detected by newborn screening in the Czech Republic
2019 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
publication
The Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of Pilot Study
2007 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study
2007 |
Second Faculty of Medicine