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Milan Macek

Showing results (101-110 of 148) with videos related to

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Human Mutation|July 12, 2022
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variantsJotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
Plos One|March 19, 2013
A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern EuropeAndrey V Khrunin, Denis V Khokhrin, Irina N Filippova, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Opportunistic genomic screening. Recommendations of the European Society of Human GeneticsGuido de Wert, Wybo Dondorp, Angus Clarke, et al.
American Journal of Respiratory and Critical Care Medicine|June 12, 2010
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transportIsabelle Sermet-Gaudelus, Emanuelle Girodon, Dorota Sands, et al.
Chest|April 24, 2016
Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic FibrosisBéla Nagy, Béla Nagy, Libor Fila, et al.
Journal of Clinical Medicine|April 3, 2020
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial DysfunctionMiloš Kubánek, Tereza Schimerová, Lenka Piherová, et al.
Public Health Genomics|September 28, 2016
Test Pricing and Reimbursement in Genomic Medicine: Towards a General StrategyAthanassios Vozikis, David N Cooper, Christina Mitropoulou, et al.
International Journal of Molecular Sciences|July 20, 2021
Novel <i>LOX</i> Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue FindingsIlse Van Gucht, Alice Krebsova, Birgitte Rode Diness, et al.
Plos One|July 20, 2023
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver diseaseMagdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, et al.
Pageof 15

Showing results (101-110 of 148) with videos related to

Sort By:
Pageof 15
Human Mutation|July 12, 2022
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variantsJotte Rodrigues Bento, Alice Krebsová, Ilse Van Gucht, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
Plos One|March 19, 2013
A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern EuropeAndrey V Khrunin, Denis V Khokhrin, Irina N Filippova, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Opportunistic genomic screening. Recommendations of the European Society of Human GeneticsGuido de Wert, Wybo Dondorp, Angus Clarke, et al.
American Journal of Respiratory and Critical Care Medicine|June 12, 2010
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transportIsabelle Sermet-Gaudelus, Emanuelle Girodon, Dorota Sands, et al.
Chest|April 24, 2016
Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic FibrosisBéla Nagy, Béla Nagy, Libor Fila, et al.
Journal of Clinical Medicine|April 3, 2020
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial DysfunctionMiloš Kubánek, Tereza Schimerová, Lenka Piherová, et al.
Public Health Genomics|September 28, 2016
Test Pricing and Reimbursement in Genomic Medicine: Towards a General StrategyAthanassios Vozikis, David N Cooper, Christina Mitropoulou, et al.
International Journal of Molecular Sciences|July 20, 2021
Novel <i>LOX</i> Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue FindingsIlse Van Gucht, Alice Krebsova, Birgitte Rode Diness, et al.
Plos One|July 20, 2023
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver diseaseMagdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, et al.
Pageof 15