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Heather Flanagan

Showing results (41-50 of 47) with videos related to

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Molecular Therapy : the Journal of the American Society of Gene Therapy|April 26, 2025
Age-sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis IINettie K Pyne, Jessica Bagel, Charles Shyng, et al.
Human Molecular Genetics|September 6, 2022
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolismMaxwell B Colonna, Tonya Moss, Sneha Mokashi, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Cell Reports. Medicine|May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylationSilvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
Disease Models & Mechanisms|March 11, 2020
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial developmentKristin M Ates, Tong Wang, Trevor Moreland, et al.
American Journal of Human Genetics|May 8, 2021
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunctionBobby G Ng, Paulina Sosicka, François Fenaille, et al.
Kidney International|August 20, 2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney diseaseLaura R Claus, Chuan Chen, Jennifer Stallworth, et al.
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Showing results (41-50 of 47) with videos related to

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Pageof 5
You have reached the last page of results.This site can display upto 47 results.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 26, 2025
Age-sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis IINettie K Pyne, Jessica Bagel, Charles Shyng, et al.
Human Molecular Genetics|September 6, 2022
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolismMaxwell B Colonna, Tonya Moss, Sneha Mokashi, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Cell Reports. Medicine|May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylationSilvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
Disease Models & Mechanisms|March 11, 2020
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial developmentKristin M Ates, Tong Wang, Trevor Moreland, et al.
American Journal of Human Genetics|May 8, 2021
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunctionBobby G Ng, Paulina Sosicka, François Fenaille, et al.
Kidney International|August 20, 2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney diseaseLaura R Claus, Chuan Chen, Jennifer Stallworth, et al.
Pageof 5