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Himanshu Goel

Showing results (91-100 of 121) with videos related to

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American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
European Journal of Human Genetics : EJHG|July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disordersMatthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2024
Natural history of adults with KBG syndrome: A physician-reported experienceAllan Bayat, Hannah Grimes, Elke de Boer, et al.
Journal of Autism and Developmental Disorders|May 25, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated PhenotypesIrene Mademont-Soler, Maria Camós-Carreras, Aurore Garde, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Clinical Genetics|July 11, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variantsFrancesca Furia, Amanda M Levy, Miel Theunis, et al.
Genome Research|February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxiaHaloom Rafehi, Liam G Fearnley, Justin Read, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Pageof 13

Showing results (91-100 of 121) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|June 20, 2017
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, et al.
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
European Journal of Human Genetics : EJHG|July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disordersMatthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2024
Natural history of adults with KBG syndrome: A physician-reported experienceAllan Bayat, Hannah Grimes, Elke de Boer, et al.
Journal of Autism and Developmental Disorders|May 25, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated PhenotypesIrene Mademont-Soler, Maria Camós-Carreras, Aurore Garde, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Clinical Genetics|July 11, 2024
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variantsFrancesca Furia, Amanda M Levy, Miel Theunis, et al.
Genome Research|February 27, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxiaHaloom Rafehi, Liam G Fearnley, Justin Read, et al.
American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.
Pageof 13