Publications by authors named "M Macek"

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Cascade counselling and testing. Recommendations of the European Society of Human Genetics.
Guido de Wert, Carla G van El, Angus Clarke, Christophe Cordier, Florence Fellmann, Milan Macek

Eur J Hum Genet· December 2025

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Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.
P-R Burgel, A Orenti, E Cromwell, M Macek, H H Gutierrez

J Cyst Fibros· November 2025

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Intragenic Deletions in a Single Family with Dilated Cardiomyopathy.
Marketa Wayhelova, Petra Peldova, Alice Krebsova, Michaela Nemcikova, Matej Sojka, Milan Macek

Appl Clin Genet· October 2025

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Comparison of the Effect of CFTR Modulators // and / via Serum Human Epididymis Protein 4 Concentration in Homozygous Cystic Fibrosis Patients.
Marianna Pócsi, Libor Fila, Csaba Péterfia, Adrien Halász, Tibor G Szanto, Milan Macek

J Clin Med· September 2025

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Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
Martin Schwarz, Miroslav Fišer, Lenka Šodková, Eva Míšová, Martin Drahanský, Milan Macek

Clin Genet· August 2025

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