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Concetta Bormans

Showing results (1-10 of 13) with videos related to

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Genetics Research|May 14, 2016
Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotypeEyal Reinstein, Shay Tzur, Concetta Bormans, et al.
European Journal of Human Genetics : EJHG|June 23, 2016
Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencingEyal Reinstein, Shay Tzur, Rony Cohen, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology|January 19, 2021
Hereditary alpha-tryptasemia in 101 patients with mast cell activation-related symptomatology including anaphylaxisMatthew P Giannetti, Emily Weller, Concetta Bormans, et al.
Genetics Research|June 7, 2016
Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophyLior Cohen, Shay Tzur, Nitza Goldenberg-Cohen, et al.
Molecular Genetics and Genomics : MGG|March 11, 2021
Performance comparison: exome sequencing as a single test replacing Sanger sequencingHila Fridman, Concetta Bormans, Moshe Einhorn, et al.
Human Mutation|July 17, 2008
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individualsDoron M Behar, Jason Blue-Smith, David F Soria-Hernanz, et al.
Journal of Lipid Research|November 23, 2013
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiencyDoron M Behar, Lina Basel-Vanagaite, Fabian Glaser, et al.
European Journal of Human Genetics : EJHG|September 8, 2016
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin CEyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, et al.
Human Mutation|February 4, 2015
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasiaEyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, et al.
European Journal of Human Genetics : EJHG|May 7, 2021
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomesAnne-Mai Ilumäe, Helen Post, Rodrigo Flores, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Genetics Research|May 14, 2016
Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotypeEyal Reinstein, Shay Tzur, Concetta Bormans, et al.
European Journal of Human Genetics : EJHG|June 23, 2016
Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencingEyal Reinstein, Shay Tzur, Rony Cohen, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology|January 19, 2021
Hereditary alpha-tryptasemia in 101 patients with mast cell activation-related symptomatology including anaphylaxisMatthew P Giannetti, Emily Weller, Concetta Bormans, et al.
Genetics Research|June 7, 2016
Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophyLior Cohen, Shay Tzur, Nitza Goldenberg-Cohen, et al.
Molecular Genetics and Genomics : MGG|March 11, 2021
Performance comparison: exome sequencing as a single test replacing Sanger sequencingHila Fridman, Concetta Bormans, Moshe Einhorn, et al.
Human Mutation|July 17, 2008
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individualsDoron M Behar, Jason Blue-Smith, David F Soria-Hernanz, et al.
Journal of Lipid Research|November 23, 2013
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiencyDoron M Behar, Lina Basel-Vanagaite, Fabian Glaser, et al.
European Journal of Human Genetics : EJHG|September 8, 2016
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin CEyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, et al.
Human Mutation|February 4, 2015
Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasiaEyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, et al.
European Journal of Human Genetics : EJHG|May 7, 2021
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomesAnne-Mai Ilumäe, Helen Post, Rodrigo Flores, et al.
Pageof 2