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David G Hunter

Showing results (171-180 of 185) with videos related to

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Brain : a Journal of Neurology|February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
European Journal of Human Genetics : EJHG|March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain developmentJulie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Investigative Ophthalmology & Visual Science|August 12, 2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin EffectSherin Shaaban, Sarah MacKinnon, Caroline Andrews, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|April 27, 2021
Digital therapeutic improves visual acuity and encourages high adherence in amblyopic children in open-label pilot studyScott Xiao, Eric D Gaier, Hank C Wu, et al.
Nature|April 6, 2018
Lens regeneration in childrenDemetrios G Vavvas, Thaddeus P Dryja, M Edward Wilson, et al.
Investigative Ophthalmology & Visual Science|August 12, 2020
Recurrent Rare Copy Number Variants Increase Risk for EsotropiaMary C Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, et al.
Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Investigative Ophthalmology & Visual Science|March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding MicroarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Pageof 19

Showing results (171-180 of 185) with videos related to

Sort By:
Pageof 19
Brain : a Journal of Neurology|February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
European Journal of Human Genetics : EJHG|March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain developmentJulie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Investigative Ophthalmology & Visual Science|August 12, 2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin EffectSherin Shaaban, Sarah MacKinnon, Caroline Andrews, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|April 27, 2021
Digital therapeutic improves visual acuity and encourages high adherence in amblyopic children in open-label pilot studyScott Xiao, Eric D Gaier, Hank C Wu, et al.
Nature|April 6, 2018
Lens regeneration in childrenDemetrios G Vavvas, Thaddeus P Dryja, M Edward Wilson, et al.
Investigative Ophthalmology & Visual Science|August 12, 2020
Recurrent Rare Copy Number Variants Increase Risk for EsotropiaMary C Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, et al.
Human Mutation|January 25, 2022
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorderDaniel Natera-de Benito, Julie A Jurgens, Alison Yeung, et al.
Biorxiv : the Preprint Server for Biology|September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Investigative Ophthalmology & Visual Science|March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding MicroarraysJulie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Pageof 19