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CYP21 gene
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Substitution in the promoter region ofthe CYP21 affects a phenotype ofthe disease in patients with 21-hydroxylase deficiency
2009 |
Third Faculty of Medicine
publication
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations
2003 |
Second Faculty of Medicine
publication
Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution
2003 |
Second Faculty of Medicine, Central Library of Charles University
publication
Molecular genetic analysis of steroid 21-hydroxylase gene
2004 |
Second Faculty of Medicine
publication
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
2005 |
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
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia
2005 |
Second Faculty of Medicine, Third Faculty of Medicine