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Scientific Reports
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June 7, 2022
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, et al.
Cellular and Molecular Life Sciences : CMLS
|
April 13, 2019
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho<sup>D190N</sup> mutation
Javier Sancho-Pelluz, Xuan Cui, Winston Lee, et al.
American Journal of Hematology
|
August 18, 2018
Genomic and clinical characterization of B/T mixed phenotype acute leukemia reveals recurrent features and T-ALL like mutations
Xiaoli Mi, Gabriel Griffin, Winston Lee, et al.
The Journal of Clinical Investigation
|
December 5, 2017
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach
Simon M Petersen-Jones, Laurence M Occelli, Paige A Winkler, et al.
Investigative Ophthalmology & Visual Science
|
September 9, 2025
Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
Pei-Hsuan Lin, Eugene Yu-Chuan Kang, Neoklis Makrides, et al.
Ophthalmology
|
January 10, 2018
Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study
Jesús D Melgarejo, Joseph H Lee, Michele Petitto, et al.
American Journal of Ophthalmology
|
August 10, 2024
Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study
Pei-Kang Liu, Winston Lee, Pei-Yin Su, et al.
Science Advances
|
February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biomolecules
|
March 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, et al.
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of 13
Search research articles
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Showing results (111-120 of 124) with videos related to
Sort By:
Page
of 13
Scientific Reports
|
June 7, 2022
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, et al.
Cellular and Molecular Life Sciences : CMLS
|
April 13, 2019
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho<sup>D190N</sup> mutation
Javier Sancho-Pelluz, Xuan Cui, Winston Lee, et al.
American Journal of Hematology
|
August 18, 2018
Genomic and clinical characterization of B/T mixed phenotype acute leukemia reveals recurrent features and T-ALL like mutations
Xiaoli Mi, Gabriel Griffin, Winston Lee, et al.
The Journal of Clinical Investigation
|
December 5, 2017
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach
Simon M Petersen-Jones, Laurence M Occelli, Paige A Winkler, et al.
Investigative Ophthalmology & Visual Science
|
September 9, 2025
Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy
Pei-Hsuan Lin, Eugene Yu-Chuan Kang, Neoklis Makrides, et al.
Ophthalmology
|
January 10, 2018
Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study
Jesús D Melgarejo, Joseph H Lee, Michele Petitto, et al.
American Journal of Ophthalmology
|
August 10, 2024
Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study
Pei-Kang Liu, Winston Lee, Pei-Yin Su, et al.
Science Advances
|
February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biomolecules
|
March 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, et al.
Page
of 13