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Raymond Caylor

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

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Human Mutation|October 13, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencingIsabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variantTonya Moss, Melanie May, Heather Flanagan-Steet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.
NPJ Genomic Medicine|June 9, 2026
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome InactivationBenilde García-de-Teresa, Tianna Zhao, Consuelo Salas-Labadía, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Pageof 1

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

Sort By:
Pageof 1
Human Mutation|October 13, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencingIsabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, et al.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variantTonya Moss, Melanie May, Heather Flanagan-Steet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.
NPJ Genomic Medicine|June 9, 2026
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome InactivationBenilde García-de-Teresa, Tianna Zhao, Consuelo Salas-Labadía, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Pageof 1