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Brian P Brooks

Showing results (91-100 of 158) with videos related to

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Eye (London, England)|September 17, 2022
Structural integrity of retinal pigment epithelial cells in eyes with age-related scattered hypofluorescent spots on late phase indocyanine green angiography (ASHS-LIA)Joanne Li, Nancy Aguilera, Tao Liu, et al.
Progress in Retinal and Eye Research|June 21, 2022
The retinal pigmentation pathway in human albinism: Not so black and whiteReinier Bakker, Ellie L Wagstaff, Charlotte C Kruijt, et al.
Brain Communications|April 25, 2020
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometryNeda Sadeghi, Elizabeth Hutchinson, Carol Van Ryzin, et al.
American Journal of Medical Genetics. Part A|March 10, 2020
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung diseaseElizabeth A Burke, Kyle E Reichard, Lynne A Wolfe, et al.
Medrxiv : the Preprint Server for Health Sciences|December 11, 2023
The qMini assay identifies an overlooked class of splice variantsBin Guan, Chelsea Bender, Madhulatha Pantrangi, et al.
The Journal of Clinical Investigation|October 5, 2011
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismIghovie F Onojafe, David R Adams, Dimitre R Simeonov, et al.
Ophthalmology|November 4, 2022
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal DystrophyLaryssa A Huryn, Christina Torres Kozycki, Jasmine Y Serpen, et al.
Ophthalmology|July 30, 2018
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single CenterBrian P Brooks, Wadih M Zein, Amy H Thompson, et al.
Investigative Ophthalmology & Visual Science|November 7, 2018
The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone DensityDaniel J Lee, Erica N Woertz, Alexis Visotcky, et al.
American Journal of Human Genetics|November 28, 2016
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and DeafnessAman George, Dina J Zand, Robert B Hufnagel, et al.
Pageof 16

Showing results (91-100 of 158) with videos related to

Sort By:
Pageof 16
Eye (London, England)|September 17, 2022
Structural integrity of retinal pigment epithelial cells in eyes with age-related scattered hypofluorescent spots on late phase indocyanine green angiography (ASHS-LIA)Joanne Li, Nancy Aguilera, Tao Liu, et al.
Progress in Retinal and Eye Research|June 21, 2022
The retinal pigmentation pathway in human albinism: Not so black and whiteReinier Bakker, Ellie L Wagstaff, Charlotte C Kruijt, et al.
Brain Communications|April 25, 2020
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometryNeda Sadeghi, Elizabeth Hutchinson, Carol Van Ryzin, et al.
American Journal of Medical Genetics. Part A|March 10, 2020
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung diseaseElizabeth A Burke, Kyle E Reichard, Lynne A Wolfe, et al.
Medrxiv : the Preprint Server for Health Sciences|December 11, 2023
The qMini assay identifies an overlooked class of splice variantsBin Guan, Chelsea Bender, Madhulatha Pantrangi, et al.
The Journal of Clinical Investigation|October 5, 2011
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismIghovie F Onojafe, David R Adams, Dimitre R Simeonov, et al.
Ophthalmology|November 4, 2022
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal DystrophyLaryssa A Huryn, Christina Torres Kozycki, Jasmine Y Serpen, et al.
Ophthalmology|July 30, 2018
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single CenterBrian P Brooks, Wadih M Zein, Amy H Thompson, et al.
Investigative Ophthalmology & Visual Science|November 7, 2018
The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone DensityDaniel J Lee, Erica N Woertz, Alexis Visotcky, et al.
American Journal of Human Genetics|November 28, 2016
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and DeafnessAman George, Dina J Zand, Robert B Hufnagel, et al.
Pageof 16