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Milan Macek

Showing results (51-60 of 148) with videos related to

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Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|August 5, 2021
Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosisEva Furstova, Tereza Dousova, Jakub Beranek, et al.
Casopis Lekaru Ceskych|March 3, 2023
Ethical principles for the usage and sharing of genomic data from researcVěra Franková, Hana Svozilová, Viktor Stránecký, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2013
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 populationsPetra Křenková, Tereza Piskáčková, Andrea Holubová, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 5, 2026
Investigation of HE4 expression concerning epithelial-mesenchymal transition (EMT) in cystic fibrosis epithelial cellsMarianna Pócsi, György Jázon Balla, Ferenc Fenyvesi, et al.
Human Mutation|April 17, 2009
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScannerNienke van der Stoep, Chantal D M van Paridon, Tom Janssens, et al.
Pharmacogenomics|March 3, 2012
Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicineKonstantinos Mitropoulos, Federico Innocenti, Ron H van Schaik, et al.
Nucleic Acids Research|December 1, 2006
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwideSjozef van Baal, Polynikis Kaimakis, Manyphong Phommarinh, et al.
American Journal of Medical Genetics. Part A|December 15, 2021
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variantMartin Schwarz, Lukáš Ryba, Anna Křepelová, et al.
Clinical Genetics|August 30, 2025
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene VariantsMartin Schwarz, Miroslav Fišer, Lenka Šodková, et al.
American Journal of Medical Genetics. Part A|March 23, 2026
A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN AcronymMarek Turnovec, Adéla Bubeníková, Ondřej Rýdlo, et al.
Pageof 15

Showing results (51-60 of 148) with videos related to

Sort By:
Pageof 15
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|August 5, 2021
Response to elexacaftor/tezacaftor/ivacaftor in intestinal organoids derived from people with cystic fibrosisEva Furstova, Tereza Dousova, Jakub Beranek, et al.
Casopis Lekaru Ceskych|March 3, 2023
Ethical principles for the usage and sharing of genomic data from researcVěra Franková, Hana Svozilová, Viktor Stránecký, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2013
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 populationsPetra Křenková, Tereza Piskáčková, Andrea Holubová, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 5, 2026
Investigation of HE4 expression concerning epithelial-mesenchymal transition (EMT) in cystic fibrosis epithelial cellsMarianna Pócsi, György Jázon Balla, Ferenc Fenyvesi, et al.
Human Mutation|April 17, 2009
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScannerNienke van der Stoep, Chantal D M van Paridon, Tom Janssens, et al.
Pharmacogenomics|March 3, 2012
Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicineKonstantinos Mitropoulos, Federico Innocenti, Ron H van Schaik, et al.
Nucleic Acids Research|December 1, 2006
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwideSjozef van Baal, Polynikis Kaimakis, Manyphong Phommarinh, et al.
American Journal of Medical Genetics. Part A|December 15, 2021
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variantMartin Schwarz, Lukáš Ryba, Anna Křepelová, et al.
Clinical Genetics|August 30, 2025
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene VariantsMartin Schwarz, Miroslav Fišer, Lenka Šodková, et al.
American Journal of Medical Genetics. Part A|March 23, 2026
A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN AcronymMarek Turnovec, Adéla Bubeníková, Ondřej Rýdlo, et al.
Pageof 15