Milan Macek
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 95 publications
A call for caution in expanding the mutational spectrum of SI gene deficiency.
Journal: Scandinavian journal of gastroenterology
Published: June 01, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: medRxiv : the preprint server for health sciences
Published: March 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: American journal of human genetics
Published: February 15, 2026
The Long-Term Clinical Progression of Genotype-Positive/Phenotype-Negative Patients With Hypertrophic Cardiomyopathy.
Journal: The American journal of cardiology
Published: January 12, 2026
Characterization of two ultra-rare CFTR variants, P.Leu999del and P.Glu1104Lys, with unknown theratyping profiles.
Journal: Orphanet journal of rare diseases
Published: December 23, 2025
Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.
Journal: Genes
Published: December 19, 2025
Long-term fate of long QT syndrome patients diagnosed in childhood and differential effects of beta-blockers.
Journal: Frontiers in cardiovascular medicine
Published: October 26, 2025
Investigation of HE4 expression concerning epithelial-mesenchymal transition (EMT) in cystic fibrosis epithelial cells.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: October 25, 2025
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: August 25, 2025
Comparison of the Effect of CFTR Modulators elexacaftor/tezacaftor/ivacaftor and lumacaftor/ivacaftor via Serum Human Epididymis Protein 4 Concentration in p.Phe508del-CFTR Homozygous Cystic Fibrosis Patients.
Journal: Journal of clinical medicine
Published: August 06, 2025
Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.
Journal: Acta dermatovenerologica Croatica : ADC
Published: July 14, 2025
Last Updated: 09/26/2026