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Nancy Braverman

Showing results (21-30 of 68) with videos related to

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Disease Models & Mechanisms|December 22, 2019
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctataWedad Fallatah, Tara Smith, Wei Cui, et al.
Neurogenetics|January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegenerationJulia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Biorxiv : the Preprint Server for Biology|May 25, 2026
Clinically relevant AAV8- <i>PEX1</i> gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorderSamy Omri, Erminia Di Pietro, Devin S McDougald, et al.
Molecular Genetics and Metabolism|January 12, 2010
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeletonNancy Braverman, Rui Zhang, Li Chen, et al.
American Journal of Medical Genetics. Part A|November 27, 2019
Rhizomelic chondrodysplasia punctata morbidity and mortality, an updateAngela L Duker, Timothy Niiler, Dagmar Kinderman, et al.
Human Mutation|December 29, 2017
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase geneYoon J Jang, Abigail L LaBella, Timothy P Feeney, et al.
Experimental Eye Research|June 30, 2019
A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum DisorderCatherine Argyriou, Anna Polosa, Bruno Cecyre, et al.
Human Mutation|October 13, 2011
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3Brandon Itzkovitz, Sarn Jiralerspong, Graeme Nimmo, et al.
Journal of Inherited Metabolic Disease|December 18, 2020
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctataWedad Fallatah, Monica Schouten, Christine Yergeau, et al.
American Journal of Medical Genetics. Part A|July 29, 2008
Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital developmentVeronica Mardo, Elizabeth E Squibb, Nancy Braverman, et al.
Pageof 7

Showing results (21-30 of 68) with videos related to

Sort By:
Pageof 7
Disease Models & Mechanisms|December 22, 2019
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctataWedad Fallatah, Tara Smith, Wei Cui, et al.
Neurogenetics|January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegenerationJulia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Biorxiv : the Preprint Server for Biology|May 25, 2026
Clinically relevant AAV8- <i>PEX1</i> gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorderSamy Omri, Erminia Di Pietro, Devin S McDougald, et al.
Molecular Genetics and Metabolism|January 12, 2010
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeletonNancy Braverman, Rui Zhang, Li Chen, et al.
American Journal of Medical Genetics. Part A|November 27, 2019
Rhizomelic chondrodysplasia punctata morbidity and mortality, an updateAngela L Duker, Timothy Niiler, Dagmar Kinderman, et al.
Human Mutation|December 29, 2017
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase geneYoon J Jang, Abigail L LaBella, Timothy P Feeney, et al.
Experimental Eye Research|June 30, 2019
A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum DisorderCatherine Argyriou, Anna Polosa, Bruno Cecyre, et al.
Human Mutation|October 13, 2011
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3Brandon Itzkovitz, Sarn Jiralerspong, Graeme Nimmo, et al.
Journal of Inherited Metabolic Disease|December 18, 2020
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctataWedad Fallatah, Monica Schouten, Christine Yergeau, et al.
American Journal of Medical Genetics. Part A|July 29, 2008
Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital developmentVeronica Mardo, Elizabeth E Squibb, Nancy Braverman, et al.
Pageof 7