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Ophthalmic Genetics
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August 2, 2023
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment
Michelle Alabek, Katherine Andersen, Lesley Everett, et al.
Retinal Cases & Brief Reports
|
September 6, 2022
A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT
Mariana M da Palma, Molly Marra, Mark E Pennesi
Ophthalmic Genetics
|
February 14, 2025
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers
Rebecca Clark, Haider Sarwar, Leland Wong, et al.
Elife
|
September 3, 2019
Retrograde Ret signaling controls sensory pioneer axon outgrowth
Adam Tuttle, Catherine M Drerup, Molly Marra, et al.
American Journal of Ophthalmology Case Reports
|
April 25, 2023
Vitelliform maculopathy in MELAS syndrome
Cody Jahrig, Cristy A Ku, Molly Marra, et al.
Genes
|
February 25, 2023
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases
Hafiz Muhammad Jafar Hussain, Meng Wang, Austin Huang, et al.
JCI Insight
|
September 12, 2024
Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics
Kenji Nakamichi, Jennifer Huey, Riccardo Sangermano, et al.
American Journal of Ophthalmology
|
September 20, 2024
Refractive Error in Inherited Retinal Disease
Shaden H Yassin, Naomi E Wagner, Thomas Khuu, et al.
Ophthalmic Genetics
|
August 18, 2023
Expanding the phenotypic and genotypic spectrum of patients with <i>HGSNAT</i>-related retinopathy
Mariana Matioli da Palma, Molly Marra, Austin D Igelman, et al.
Human Mutation
|
March 4, 2026
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning
David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Ophthalmic Genetics
|
August 2, 2023
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment
Michelle Alabek, Katherine Andersen, Lesley Everett, et al.
Retinal Cases & Brief Reports
|
September 6, 2022
A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT
Mariana M da Palma, Molly Marra, Mark E Pennesi
Ophthalmic Genetics
|
February 14, 2025
Reproductive counseling and decision making in females affected by X-linked inherited retinal disease: perspectives from carriers
Rebecca Clark, Haider Sarwar, Leland Wong, et al.
Elife
|
September 3, 2019
Retrograde Ret signaling controls sensory pioneer axon outgrowth
Adam Tuttle, Catherine M Drerup, Molly Marra, et al.
American Journal of Ophthalmology Case Reports
|
April 25, 2023
Vitelliform maculopathy in MELAS syndrome
Cody Jahrig, Cristy A Ku, Molly Marra, et al.
Genes
|
February 25, 2023
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases
Hafiz Muhammad Jafar Hussain, Meng Wang, Austin Huang, et al.
JCI Insight
|
September 12, 2024
Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics
Kenji Nakamichi, Jennifer Huey, Riccardo Sangermano, et al.
American Journal of Ophthalmology
|
September 20, 2024
Refractive Error in Inherited Retinal Disease
Shaden H Yassin, Naomi E Wagner, Thomas Khuu, et al.
Ophthalmic Genetics
|
August 18, 2023
Expanding the phenotypic and genotypic spectrum of patients with <i>HGSNAT</i>-related retinopathy
Mariana Matioli da Palma, Molly Marra, Austin D Igelman, et al.
Human Mutation
|
March 4, 2026
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning
David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, et al.
Page
of 2