Milan Macek

16PUBLICATIONS
93CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Medical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Optical technology
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Publications (16)

|Jun 01, 2026
A call for caution in expanding the mutational spectrum of SI gene deficiency.

|Mar 23, 2026
A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.

Marek Turnovec, Adéla Bubeníková, Ondřej Rýdlo

|Feb 27, 2026
Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Eszter Kovács, Zsuzsanna Szűcs, Miroslav Horňák

|Dec 14, 2025
Cascade counselling and testing. Recommendations of the European Society of Human Genetics.

Guido de Wert, Carla G van El, Angus Clarke

|Sep 13, 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.

Marianna Pócsi, Libor Fila, Csaba Péterfia

|Aug 30, 2025
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Martin Schwarz, Miroslav Fišer, Lenka Šodková

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Frequent Collaborators

4 joint publications

Martin Schwarz

3 joint publications

Markéta Havlovicová

2 joint publications

Martina C Cornel

2 joint publications

Wybo Dondorp