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Sarah MacKinnon

Showing results (21-30 of 31) with videos related to

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Developmental Cell|August 29, 2017
Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and DuraMax A Tischfield, Caroline D Robson, Nicole M Gilette, et al.
American Journal of Human Genetics|July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceBryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
The Journal of Biological Chemistry|February 25, 2023
Gβγ subunits colocalize with RNA polymerase II and regulate transcription in cardiac fibroblastsShahriar M Khan, Ryan D Martin, Andrew Bayne, 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.
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.
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.
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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Developmental Cell|August 29, 2017
Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and DuraMax A Tischfield, Caroline D Robson, Nicole M Gilette, et al.
American Journal of Human Genetics|July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceBryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
The Journal of Biological Chemistry|February 25, 2023
Gβγ subunits colocalize with RNA polymerase II and regulate transcription in cardiac fibroblastsShahriar M Khan, Ryan D Martin, Andrew Bayne, 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.
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.
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.
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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Pageof 4