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Orphanet Journal of Rare Diseases
|
February 1, 2020
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Ahra Cho, Jose Ronaldo Lima de Carvalho, Akemi J Tanaka, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
September 9, 2025
Relation of Visual Function, Retinal Thickness by Optical Coherence Tomography, and MRI Brain Volume in Pediatric-Onset Multiple Sclerosis
Anna Sosa, Kimberly A O'Neill, Ruben Jauregui, et al.
Orphanet Journal of Rare Diseases
|
August 17, 2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
Katherine Y Liu, Jesse D Sengillo, Gabriel Velez, et al.
American Journal of Ophthalmology
|
June 11, 2019
Spectrum of Disease Severity and Phenotype in Choroideremia Carriers
Ruben Jauregui, Karen Sophia Park, Akemi J Tanaka, et al.
Brain Sciences
|
July 29, 2023
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review
Ruben Jauregui, Nicolas J Abreu, Shani Golan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 14, 2018
Genetic Rescue Reverses Microglial Activation in Preclinical Models of Retinitis Pigmentosa
Lijuan Zhang, Xuan Cui, Ruben Jauregui, et al.
Ophthalmology
|
May 16, 2018
Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa
Yi-Ting Tsai, Wen-Hsuan Wu, Ting-Ting Lee, et al.
Neurology
|
March 22, 2022
Trajectories of Neurologic Recovery 12 Months After Hospitalization for COVID-19: A Prospective Longitudinal Study
Jennifer A Frontera, Dixon Yang, Chaitanya Medicherla, et al.
Journal of the Neurological Sciences
|
May 17, 2021
A prospective study of long-term outcomes among hospitalized COVID-19 patients with and without neurological complications
Jennifer A Frontera, Dixon Yang, Ariane Lewis, et al.
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of 5
Search research articles
Search
Showing results (41-50 of 49) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 49 results.
Orphanet Journal of Rare Diseases
|
February 1, 2020
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Ahra Cho, Jose Ronaldo Lima de Carvalho, Akemi J Tanaka, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
September 9, 2025
Relation of Visual Function, Retinal Thickness by Optical Coherence Tomography, and MRI Brain Volume in Pediatric-Onset Multiple Sclerosis
Anna Sosa, Kimberly A O'Neill, Ruben Jauregui, et al.
Orphanet Journal of Rare Diseases
|
August 17, 2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity
Katherine Y Liu, Jesse D Sengillo, Gabriel Velez, et al.
American Journal of Ophthalmology
|
June 11, 2019
Spectrum of Disease Severity and Phenotype in Choroideremia Carriers
Ruben Jauregui, Karen Sophia Park, Akemi J Tanaka, et al.
Brain Sciences
|
July 29, 2023
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review
Ruben Jauregui, Nicolas J Abreu, Shani Golan, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 14, 2018
Genetic Rescue Reverses Microglial Activation in Preclinical Models of Retinitis Pigmentosa
Lijuan Zhang, Xuan Cui, Ruben Jauregui, et al.
Ophthalmology
|
May 16, 2018
Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa
Yi-Ting Tsai, Wen-Hsuan Wu, Ting-Ting Lee, et al.
Neurology
|
March 22, 2022
Trajectories of Neurologic Recovery 12 Months After Hospitalization for COVID-19: A Prospective Longitudinal Study
Jennifer A Frontera, Dixon Yang, Chaitanya Medicherla, et al.
Journal of the Neurological Sciences
|
May 17, 2021
A prospective study of long-term outcomes among hospitalized COVID-19 patients with and without neurological complications
Jennifer A Frontera, Dixon Yang, Ariane Lewis, et al.
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of 5