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Showing results (841-850 of 854) with videos related to

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JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.
Journal of Medical Genetics|January 26, 2021
<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activationLev Prasov, Brenda L Bohnsack, Antonette S El Husny, et al.
Open Biology|November 9, 2018
Phosphorylation of Parkin at serine 65 is essential for its activation <i>in vivo</i>Thomas G McWilliams, Erica Barini, Risto Pohjolan-Pirhonen, et al.
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Aperture Neuro|August 8, 2022
BrainIAK: The Brain Imaging Analysis KitManoj Kumar, Michael J Anderson, James W Antony, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal developmentCallum Hunt, Manjiri Patil, Hammad Syed, et al.
Journal of Clinical Immunology|July 29, 2021
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 PatientsHasan Hashem, Giorgia Bucciol, Seza Ozen, et al.
Genetics in Medicine Open|July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndromeBryn D Webb, Julie A Jurgens, Narisu Narisu, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Pageof 86

Showing results (841-850 of 854) with videos related to

Sort By:
Pageof 86
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.
Journal of Medical Genetics|January 26, 2021
<i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activationLev Prasov, Brenda L Bohnsack, Antonette S El Husny, et al.
Open Biology|November 9, 2018
Phosphorylation of Parkin at serine 65 is essential for its activation <i>in vivo</i>Thomas G McWilliams, Erica Barini, Risto Pohjolan-Pirhonen, et al.
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Aperture Neuro|August 8, 2022
BrainIAK: The Brain Imaging Analysis KitManoj Kumar, Michael J Anderson, James W Antony, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal developmentCallum Hunt, Manjiri Patil, Hammad Syed, et al.
Journal of Clinical Immunology|July 29, 2021
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 PatientsHasan Hashem, Giorgia Bucciol, Seza Ozen, et al.
Genetics in Medicine Open|July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndromeBryn D Webb, Julie A Jurgens, Narisu Narisu, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Pageof 86