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Stefanie Turner

Showing results (1-10 of 6) with videos related to

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European Journal of Medical Genetics|February 6, 2021
A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathyStefanie Turner, Carolyn Dress, Vinod K Misra
The American Journal of Managed Care|October 28, 2024
Patient assignment and quality performance: a misaligned systemKailey Love, Stefanie Turner, George Runger, et al.
Journal of Pediatric and Adolescent Gynecology|June 23, 2020
A Case of 45,X/46,XY Mosaicism Presenting as Swyer SyndromeMomal T Chand, Stefanie Turner, Leigh Ann Solomon, et al.
Journal of Neurodevelopmental Disorders|September 24, 2025
MED13L-related disorder characterized by severe motor speech impairmentMarissa W Mitchel, Stefanie Turner, Lauren K Walsh, et al.
Research Square|September 11, 2024
MED13L-related disorder characterized by severe motor speech impairmentMarissa Weyer Mitchel, Stefanie Turner, Lauren K Walsh, et al.
Human Mutation|October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharingJuliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
European Journal of Medical Genetics|February 6, 2021
A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathyStefanie Turner, Carolyn Dress, Vinod K Misra
The American Journal of Managed Care|October 28, 2024
Patient assignment and quality performance: a misaligned systemKailey Love, Stefanie Turner, George Runger, et al.
Journal of Pediatric and Adolescent Gynecology|June 23, 2020
A Case of 45,X/46,XY Mosaicism Presenting as Swyer SyndromeMomal T Chand, Stefanie Turner, Leigh Ann Solomon, et al.
Journal of Neurodevelopmental Disorders|September 24, 2025
MED13L-related disorder characterized by severe motor speech impairmentMarissa W Mitchel, Stefanie Turner, Lauren K Walsh, et al.
Research Square|September 11, 2024
MED13L-related disorder characterized by severe motor speech impairmentMarissa Weyer Mitchel, Stefanie Turner, Lauren K Walsh, et al.
Human Mutation|October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharingJuliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Pageof 1