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American Journal of Human Genetics
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February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
Ophthalmic Genetics
|
July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
Austin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
American Journal of Ophthalmology
|
May 12, 2023
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia
Michel Michaelides, Nashila Hirji, Sui Chien Wong, et al.
Lancet (London, England)
|
February 22, 2025
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
Michel Michaelides, Yannik Laich, Sui Chien Wong, et al.
American Journal of Ophthalmology
|
June 13, 2024
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa
Michel Michaelides, Cagri G Besirli, Yesa Yang, et al.
American Journal of Ophthalmology
|
June 8, 2025
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science
|
February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom
William A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
The British Journal of Ophthalmology
|
October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3
Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
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of 10
Search research articles
Search
Showing results (81-90 of 96) with videos related to
Sort By:
Page
of 10
American Journal of Human Genetics
|
February 1, 2025
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, et al.
Ophthalmic Genetics
|
July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
Austin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
American Journal of Ophthalmology
|
May 12, 2023
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia
Michel Michaelides, Nashila Hirji, Sui Chien Wong, et al.
Lancet (London, England)
|
February 22, 2025
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
Michel Michaelides, Yannik Laich, Sui Chien Wong, et al.
American Journal of Ophthalmology
|
June 13, 2024
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa
Michel Michaelides, Cagri G Besirli, Yesa Yang, et al.
American Journal of Ophthalmology
|
June 8, 2025
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
Michalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Ophthalmology Science
|
February 3, 2025
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom
William A Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2025
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations
William Woof, Thales A C de Guimarães, Saoud Al-Khuzaei, et al.
The British Journal of Ophthalmology
|
October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3
Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
Page
of 10