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Stephanie Halford

Showing results (11-20 of 45) with videos related to

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Genes|November 3, 2020
Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three PatientsSaoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford, et al.
Therapeutic Advances in Ophthalmology|January 6, 2022
The role of multimodal imaging and vision function testing in <i>ABCA4</i>-related retinopathies and their relevance to future therapeutic interventionsSaoud Al-Khuzaei, Mital Shah, Charlotte R Foster, et al.
Ophthalmic Genetics|November 9, 2021
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosisChetan Khantibai Patel, Suzanne Broadgate, Ahmed Shalaby, et al.
Genes|August 27, 2021
An Overview of the Genetics of <i>ABCA4</i> Retinopathies, an Evolving StorySaoud Al-Khuzaei, Suzanne Broadgate, Charlotte R Foster, et al.
Proceedings. Biological Sciences|September 6, 2007
Isolation and characterization of melanopsin (Opn4) from the Australian marsupial Sminthopsis crassicaudata (fat-tailed dunnart)Susana S Pires, Julia Shand, James Bellingham, et al.
Eye (London, England)|July 31, 2020
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"Olivia Cundy, Suzanne Broadgate, Stephanie Halford, et al.
Genes|June 28, 2023
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in <i>RS1</i>, and Skewed X-InactivationJennifer Kirkby, Stephanie Halford, Morag Shanks, et al.
JAMA Ophthalmology|April 3, 2020
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence VariationsMital Shah, Suzanne Broadgate, Morag Shanks, et al.
BMC Ophthalmology|April 10, 2021
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case reportSaoud Al-Khuzaei, Karl A Z Hudspith, Suzanne Broadgate, et al.
Molecular and Cellular Biology|March 9, 2002
Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethalityCatherine Roberts, Helen F Sutherland, Hannah Farmer, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Genes|November 3, 2020
Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three PatientsSaoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford, et al.
Therapeutic Advances in Ophthalmology|January 6, 2022
The role of multimodal imaging and vision function testing in <i>ABCA4</i>-related retinopathies and their relevance to future therapeutic interventionsSaoud Al-Khuzaei, Mital Shah, Charlotte R Foster, et al.
Ophthalmic Genetics|November 9, 2021
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosisChetan Khantibai Patel, Suzanne Broadgate, Ahmed Shalaby, et al.
Genes|August 27, 2021
An Overview of the Genetics of <i>ABCA4</i> Retinopathies, an Evolving StorySaoud Al-Khuzaei, Suzanne Broadgate, Charlotte R Foster, et al.
Proceedings. Biological Sciences|September 6, 2007
Isolation and characterization of melanopsin (Opn4) from the Australian marsupial Sminthopsis crassicaudata (fat-tailed dunnart)Susana S Pires, Julia Shand, James Bellingham, et al.
Eye (London, England)|July 31, 2020
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"Olivia Cundy, Suzanne Broadgate, Stephanie Halford, et al.
Genes|June 28, 2023
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in <i>RS1</i>, and Skewed X-InactivationJennifer Kirkby, Stephanie Halford, Morag Shanks, et al.
JAMA Ophthalmology|April 3, 2020
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence VariationsMital Shah, Suzanne Broadgate, Morag Shanks, et al.
BMC Ophthalmology|April 10, 2021
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case reportSaoud Al-Khuzaei, Karl A Z Hudspith, Suzanne Broadgate, et al.
Molecular and Cellular Biology|March 9, 2002
Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethalityCatherine Roberts, Helen F Sutherland, Hannah Farmer, et al.
Pageof 5