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Showing results (761-770 of 854) with videos related to

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Plos Genetics|March 30, 2022
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 diseaseJana Zernant, Winston Lee, Jun Wang, et al.
Molecular Vision|December 6, 2012
Absence of NR2E1 mutations in patients with aniridiaXimena Corso-Díaz, Adrienne E Borrie, Russell Bonaguro, et al.
Molecular Psychiatry|July 20, 2005
Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autismA Philippi, E Roschmann, F Tores, 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.
BMC Musculoskeletal Disorders|August 18, 2018
Use of The Global Alliance for Musculoskeletal Health survey module for estimating the population prevalence of musculoskeletal pain: findings from the Solomon IslandsD G Hoy, T Raikoti, E Smith, 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.
Pageof 86

Showing results (761-770 of 854) with videos related to

Sort By:
Pageof 86
Plos Genetics|March 30, 2022
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 diseaseJana Zernant, Winston Lee, Jun Wang, et al.
Molecular Vision|December 6, 2012
Absence of NR2E1 mutations in patients with aniridiaXimena Corso-Díaz, Adrienne E Borrie, Russell Bonaguro, et al.
Molecular Psychiatry|July 20, 2005
Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autismA Philippi, E Roschmann, F Tores, 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.
BMC Musculoskeletal Disorders|August 18, 2018
Use of The Global Alliance for Musculoskeletal Health survey module for estimating the population prevalence of musculoskeletal pain: findings from the Solomon IslandsD G Hoy, T Raikoti, E Smith, 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.
Pageof 86