Search research articles
Contact Us
Filters
Showing results (11-20 of 21) with videos related to
Page
of 3
Sort By:
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
December 22, 2018
ARL13B, a Joubert Syndrome-Associated Protein, Is Critical for Retinogenesis and Elaboration of Mouse Photoreceptor Outer Segments
Tanya L Dilan, Abigail R Moye, Ezequiel M Salido, et al.
Journal of Cell Science
|
July 24, 2025
Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development
Abigail R Moye, Michael A Robichaux, Melina A Agosto, et al.
Molecular Biology of the Cell
|
May 3, 2018
ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
Abigail R Moye, Ratnesh Singh, Victoria A Kimler, et al.
Biology of Reproduction
|
February 27, 2020
Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†
Darius J Devlin, Smriti Agrawal Zaneveld, Kaori Nozawa, et al.
Plos Genetics
|
August 20, 2019
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, et al.
American Journal of Human Genetics
|
January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
Miriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
American Journal of Human Genetics
|
February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy
Abigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
American Journal of Human Genetics
|
February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement
Siying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasis
Zoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
December 22, 2018
ARL13B, a Joubert Syndrome-Associated Protein, Is Critical for Retinogenesis and Elaboration of Mouse Photoreceptor Outer Segments
Tanya L Dilan, Abigail R Moye, Ezequiel M Salido, et al.
Journal of Cell Science
|
July 24, 2025
Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development
Abigail R Moye, Michael A Robichaux, Melina A Agosto, et al.
Molecular Biology of the Cell
|
May 3, 2018
ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
Abigail R Moye, Ratnesh Singh, Victoria A Kimler, et al.
Biology of Reproduction
|
February 27, 2020
Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†
Darius J Devlin, Smriti Agrawal Zaneveld, Kaori Nozawa, et al.
Plos Genetics
|
August 20, 2019
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, et al.
American Journal of Human Genetics
|
January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
Miriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
American Journal of Human Genetics
|
February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy
Abigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
American Journal of Human Genetics
|
February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement
Siying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasis
Zoéline Mars, Andrea Zanetti, Karolina Kaminska, et al.
Page
of 3