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B Hufnagel

Showing results (21-30 of 156) with videos related to

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Genes|March 25, 2022
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1Mariya R Ahmed, Saumil Sethna, Laura A Krueger, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhoodSophia B Hufnagel, Lisa J Martin, Amy Cassedy, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 5, 2020
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestationsVirginia Miraldi Utz, Diana S Brightman, Monica A Sandoval, et al.
Ophthalmic Surgery, Lasers & Imaging Retina|August 11, 2022
Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie DiseaseRobert A Sisk, Virginia Miraldi-Utz, Terry L Schwartz, et al.
Retinal Cases & Brief Reports|March 6, 2024
BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIMEJennifer O Adeghate, Jerome Sherman, Sherry Bass, et al.
Journal of Ophthalmology|August 18, 2018
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic AnalysisRobert A Sisk, Robert B Hufnagel, Ailee Laham, et al.
Case Reports in Neurology|June 30, 2015
Case of Small Vessel Disease Associated with COL4A1 Mutations following TraumaJoao McONeil Plancher, Robert B Hufnagel, Achala Vagal, et al.
Molecular and Cellular Neurosciences|March 14, 2013
Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exitRobert B Hufnagel, Amy N Riesenberg, Malgorzata Quinn, et al.
Investigative Ophthalmology & Visual Science|October 1, 2020
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and AdultsMalena Daich Varela, Ehsan Ullah, Sairah Yousaf, et al.
Disease Models & Mechanisms|October 27, 2015
MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cellsRizwan Yousaf, Qinghang Meng, Robert B Hufnagel, et al.
Pageof 16

Showing results (21-30 of 156) with videos related to

Sort By:
Pageof 16
Genes|March 25, 2022
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1Mariya R Ahmed, Saumil Sethna, Laura A Krueger, et al.
American Journal of Medical Genetics. Part A|May 6, 2016
Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhoodSophia B Hufnagel, Lisa J Martin, Amy Cassedy, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 5, 2020
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestationsVirginia Miraldi Utz, Diana S Brightman, Monica A Sandoval, et al.
Ophthalmic Surgery, Lasers & Imaging Retina|August 11, 2022
Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie DiseaseRobert A Sisk, Virginia Miraldi-Utz, Terry L Schwartz, et al.
Retinal Cases & Brief Reports|March 6, 2024
BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIMEJennifer O Adeghate, Jerome Sherman, Sherry Bass, et al.
Journal of Ophthalmology|August 18, 2018
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic AnalysisRobert A Sisk, Robert B Hufnagel, Ailee Laham, et al.
Case Reports in Neurology|June 30, 2015
Case of Small Vessel Disease Associated with COL4A1 Mutations following TraumaJoao McONeil Plancher, Robert B Hufnagel, Achala Vagal, et al.
Molecular and Cellular Neurosciences|March 14, 2013
Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exitRobert B Hufnagel, Amy N Riesenberg, Malgorzata Quinn, et al.
Investigative Ophthalmology & Visual Science|October 1, 2020
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and AdultsMalena Daich Varela, Ehsan Ullah, Sairah Yousaf, et al.
Disease Models & Mechanisms|October 27, 2015
MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cellsRizwan Yousaf, Qinghang Meng, Robert B Hufnagel, et al.
Pageof 16