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1.
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.
Eur J Pediatr
; 171(8): 1223-9, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22581207
2.
An ADP-ribosyltransferase 3 (ART3) variant is associated with reduced sperm counts in Czech males: case/control association study replicating results from the Japanese population.
Neuro Endocrinol Lett
; 33(1): 48-52, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22467112
3.
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.
Hum Mutat
; 30(6): 899-909, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19370767
4.
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
J Cyst Fibros
; 12(5): 532-7, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23276700
5.
A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.
J Cyst Fibros
; 9(5): 371-5, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20659818
6.
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene.
Clin Biochem
; 42(12): 1308-16, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19427845
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