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Nancy E Braverman

Showing results (31-40 of 39) with videos related to

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Pediatrics|July 4, 2006
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylationRonald D Cohn, Erik Eklund, Amanda L Bergner, et al.
Molecular Genetics and Metabolism|February 8, 2014
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorderShandi Hiebler, Tomohiro Masuda, Joseph G Hacia, et al.
Cell Reports|February 8, 2024
Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease modelBrendon D Parsons, Daniel Medina-Luna, Michal Scur, et al.
American Journal of Human Genetics|December 9, 2017
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum DisorderKim D Falkenberg, Nancy E Braverman, Ann B Moser, et al.
International Journal of Molecular Sciences|February 11, 2023
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid DeficiencyFabian Dorninger, Attila Kiss, Peter Rothauer, et al.
Human Molecular Genetics|August 13, 2003
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier J de Mollerat, Fiorella Gurrieri, Chad T Morgan, et al.
Nature Biomedical Engineering|April 14, 2026
In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorderXin D Gao, Maximiliano Presa, Jordyn E Duby, et al.
American Journal of Human Genetics|May 18, 2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxCynthia F Bartels, Hulya Bükülmez, Pius Padayatti, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Pediatrics|July 4, 2006
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylationRonald D Cohn, Erik Eklund, Amanda L Bergner, et al.
Molecular Genetics and Metabolism|February 8, 2014
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorderShandi Hiebler, Tomohiro Masuda, Joseph G Hacia, et al.
Cell Reports|February 8, 2024
Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease modelBrendon D Parsons, Daniel Medina-Luna, Michal Scur, et al.
American Journal of Human Genetics|December 9, 2017
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum DisorderKim D Falkenberg, Nancy E Braverman, Ann B Moser, et al.
International Journal of Molecular Sciences|February 11, 2023
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid DeficiencyFabian Dorninger, Attila Kiss, Peter Rothauer, et al.
Human Molecular Genetics|August 13, 2003
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier J de Mollerat, Fiorella Gurrieri, Chad T Morgan, et al.
Nature Biomedical Engineering|April 14, 2026
In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorderXin D Gao, Maximiliano Presa, Jordyn E Duby, et al.
American Journal of Human Genetics|May 18, 2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxCynthia F Bartels, Hulya Bükülmez, Pius Padayatti, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Pageof 4