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Milan Macek

Showing results (81-90 of 148) with videos related to

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Journal of Community Genetics|May 6, 2022
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United KingdomAlessia Costa, Věra Franková, Glenn Robert, et al.
Central European Journal of Public Health|June 27, 2019
Epidemiology of rare diseases detected by newborn screening in the Czech RepublicJan David, Petr Chrastina, Karolina Pešková, et al.
European Journal of Human Genetics : EJHG|October 28, 2005
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populationsFiorenza Pompei, Bianca Maria Ciminelli, Cristina Bombieri, et al.
Journal of the American Heart Association|May 17, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic CardiomyopathyJiri Bonaventura, Ethan J Rowin, Raymond H Chan, et al.
Current Controlled Trials in Cardiovascular Medicine|March 26, 2005
Fluvastatin in the therapy of acute coronary syndrome: Rationale and design of a multicenter, randomized, double-blind, placebo-controlled trial (The FACS Trial)[ISRCTN81331696]Petr Ostadal, David Alan, Petr Hajek, et al.
Personalized Medicine|May 17, 2018
Bridging genomics research between developed and developing countries: the Genomic Medicine AllianceDavid N Cooper, Angela Brand, Vita Dolzan, et al.
Orphanet Journal of Rare Diseases|October 3, 2021
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registryPanayiotis K Yiallouros, Andreas Μ Matthaiou, Pinelopi Anagnostopoulou, et al.
European Journal of Human Genetics : EJHG|August 8, 2008
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsEls Dequeker, Manfred Stuhrmann, Michael A Morris, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosisPhilip Farrell, Claude Férec, Milan Macek, et al.
Clinical Kidney Journal|June 30, 2025
Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched <i>GLA</i> gene variants of uncertain significanceIvan Rychlík, Lidmila Francová, Gabriela Dostálová, et al.
Pageof 15

Showing results (81-90 of 148) with videos related to

Sort By:
Pageof 15
Journal of Community Genetics|May 6, 2022
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United KingdomAlessia Costa, Věra Franková, Glenn Robert, et al.
Central European Journal of Public Health|June 27, 2019
Epidemiology of rare diseases detected by newborn screening in the Czech RepublicJan David, Petr Chrastina, Karolina Pešková, et al.
European Journal of Human Genetics : EJHG|October 28, 2005
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populationsFiorenza Pompei, Bianca Maria Ciminelli, Cristina Bombieri, et al.
Journal of the American Heart Association|May 17, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic CardiomyopathyJiri Bonaventura, Ethan J Rowin, Raymond H Chan, et al.
Current Controlled Trials in Cardiovascular Medicine|March 26, 2005
Fluvastatin in the therapy of acute coronary syndrome: Rationale and design of a multicenter, randomized, double-blind, placebo-controlled trial (The FACS Trial)[ISRCTN81331696]Petr Ostadal, David Alan, Petr Hajek, et al.
Personalized Medicine|May 17, 2018
Bridging genomics research between developed and developing countries: the Genomic Medicine AllianceDavid N Cooper, Angela Brand, Vita Dolzan, et al.
Orphanet Journal of Rare Diseases|October 3, 2021
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registryPanayiotis K Yiallouros, Andreas Μ Matthaiou, Pinelopi Anagnostopoulou, et al.
European Journal of Human Genetics : EJHG|August 8, 2008
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsEls Dequeker, Manfred Stuhrmann, Michael A Morris, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosisPhilip Farrell, Claude Férec, Milan Macek, et al.
Clinical Kidney Journal|June 30, 2025
Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched <i>GLA</i> gene variants of uncertain significanceIvan Rychlík, Lidmila Francová, Gabriela Dostálová, et al.
Pageof 15