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Elise Heon

Showing results (41-50 of 87) with videos related to

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Genes|July 15, 2017
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease ProgressionDavid B McGuigan, Elise Heon, Artur V Cideciyan, et al.
Genes|March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night BlindnessKate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
Epilepsia|April 18, 2026
An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic conditionVedika Jha, Christina Tsetsos, Mark Bedford, et al.
European Journal of Human Genetics : EJHG|June 26, 2014
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disordersAlmundher Al-Maawali, Lucie Dupuis, Susan Blaser, et al.
American Journal of Ophthalmology|February 9, 2018
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis ImperfectaNashila Hirji, Patrick D Bradley, Shuning Li, et al.
Translational Vision Science & Technology|February 4, 2022
Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1Mariana Flores Pimentel, Anna Heath, Michael J Wan, et al.
Vision Research|November 30, 2022
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutationsArtur V Cideciyan, Samuel G Jacobson, Alexander Sumaroka, et al.
Human Molecular Genetics|October 5, 2018
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degenerationJason Charng, Artur V Cideciyan, Samuel G Jacobson, et al.
Human Molecular Genetics|November 1, 2016
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degenerationJason Charng, Artur V Cideciyan, Samuel G Jacobson, et al.
Ophthalmology|January 19, 2010
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosaSaloni Walia, Gerald A Fishman, Samuel G Jacobson, et al.
Pageof 9

Showing results (41-50 of 87) with videos related to

Sort By:
Pageof 9
Genes|July 15, 2017
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease ProgressionDavid B McGuigan, Elise Heon, Artur V Cideciyan, et al.
Genes|March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night BlindnessKate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
Epilepsia|April 18, 2026
An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic conditionVedika Jha, Christina Tsetsos, Mark Bedford, et al.
European Journal of Human Genetics : EJHG|June 26, 2014
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disordersAlmundher Al-Maawali, Lucie Dupuis, Susan Blaser, et al.
American Journal of Ophthalmology|February 9, 2018
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis ImperfectaNashila Hirji, Patrick D Bradley, Shuning Li, et al.
Translational Vision Science & Technology|February 4, 2022
Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1Mariana Flores Pimentel, Anna Heath, Michael J Wan, et al.
Vision Research|November 30, 2022
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutationsArtur V Cideciyan, Samuel G Jacobson, Alexander Sumaroka, et al.
Human Molecular Genetics|October 5, 2018
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degenerationJason Charng, Artur V Cideciyan, Samuel G Jacobson, et al.
Human Molecular Genetics|November 1, 2016
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degenerationJason Charng, Artur V Cideciyan, Samuel G Jacobson, et al.
Ophthalmology|January 19, 2010
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosaSaloni Walia, Gerald A Fishman, Samuel G Jacobson, et al.
Pageof 9