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Carolyn D Applegate

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

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Ophthalmology Science|June 26, 2026
Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 PatientsDorothy T Wang, Bani Antonio-Aguirre, Maria Ludovica Ruggeri, et al.
The Journal of Clinical Investigation|September 5, 2018
Short telomere syndromes cause a primary T cell immunodeficiencyChrista L Wagner, Vidya Sagar Hanumanthu, C Conover Talbot, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 22, 2018
Diagnostic utility of telomere length testing in a hospital-based settingJonathan K Alder, Vidya Sagar Hanumanthu, Margaret A Strong, et al.
Science Translational Medicine|August 12, 2016
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaSusan E Stanley, Dustin L Gable, Christa L Wagner, et al.
Journal of Medical Genetics|September 4, 2017
Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disabilityGenay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative geneMir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 3

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

Sort By:
Pageof 3
Ophthalmology Science|June 26, 2026
Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 PatientsDorothy T Wang, Bani Antonio-Aguirre, Maria Ludovica Ruggeri, et al.
The Journal of Clinical Investigation|September 5, 2018
Short telomere syndromes cause a primary T cell immunodeficiencyChrista L Wagner, Vidya Sagar Hanumanthu, C Conover Talbot, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 22, 2018
Diagnostic utility of telomere length testing in a hospital-based settingJonathan K Alder, Vidya Sagar Hanumanthu, Margaret A Strong, et al.
Science Translational Medicine|August 12, 2016
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaSusan E Stanley, Dustin L Gable, Christa L Wagner, et al.
Journal of Medical Genetics|September 4, 2017
Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disabilityGenay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative geneMir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 3