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Loren Pena

Showing results (11-20 of 21) with videos related to

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Molecular Genetics and Metabolism Reports|March 22, 2024
Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IVChie Naito, Karis Kosar, Eriko Kishimoto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
Clinical Genetics|August 27, 2019
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed diseaseAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Molecular Genetics and Metabolism|October 18, 2011
Acute management of propionic acidemiaKimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism Reports|March 22, 2024
Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IVChie Naito, Karis Kosar, Eriko Kishimoto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeVandana Shashi, Kelly Schoch, Rebecca Spillmann, et al.
Clinical Genetics|August 27, 2019
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed diseaseAllyn McConkie-Rosell, Kelly Schoch, Jennifer Sullivan, et al.
Molecular Genetics and Metabolism|October 18, 2011
Acute management of propionic acidemiaKimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2021
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2021
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestationsLance H Rodan, Rebecca C Spillmann, Harley T Kurata, et al.
Pageof 3