Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cent Eur J Public Health
; 27(2): 153-159, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241292
3.
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
Eur J Pediatr
; 177(11): 1697-1704, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30136145
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581207
5.
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Biochim Biophys Acta Mol Basis Dis
; 1866(11): 165905, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730979
6.
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Eur J Med Genet
; 61(6): 315-321, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29307790
7.
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
Eur J Hum Genet
; 14(5): 567-76, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16493442
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-23276700
9.
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.
J Cyst Fibros
; 8(3): 224-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19208501