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Retina (Philadelphia, Pa.)
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May 8, 2023
Reply
Emma Linton, Assad Jalil, Panagiotis Sergouniotis, et al.
Retina (Philadelphia, Pa.)
|
September 27, 2022
LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol
Emma Linton, Assad Jalil, Panagiotis Sergouniotis, et al.
The British Journal of Ophthalmology
|
August 19, 2018
Variability in the ocular phenotype in mucopolysaccharidosis
Krishanthy Sornalingam, Ahmed Javed, Tariq Aslam, et al.
The British Journal of Ophthalmology
|
October 20, 2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
Robert H Henderson, Donna S Mackay, Zheng Li, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2025
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa
Mark J Hughes, Tina Lamey, Elena R Schiff, et al.
Retina (Philadelphia, Pa.)
|
October 17, 2024
THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease
Matthew P Simunovic, Anthony T Moore, John Grigg, et al.
Orphanet Journal of Rare Diseases
|
March 21, 2021
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Graeme C Black, Panagiotis Sergouniotis, Andrea Sodi, et al.
Scientific Reports
|
October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie Rowlands, Huw B Thomas, Jenny Lord, et al.
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Search research articles
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Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
Retina (Philadelphia, Pa.)
|
May 8, 2023
Reply
Emma Linton, Assad Jalil, Panagiotis Sergouniotis, et al.
Retina (Philadelphia, Pa.)
|
September 27, 2022
LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol
Emma Linton, Assad Jalil, Panagiotis Sergouniotis, et al.
The British Journal of Ophthalmology
|
August 19, 2018
Variability in the ocular phenotype in mucopolysaccharidosis
Krishanthy Sornalingam, Ahmed Javed, Tariq Aslam, et al.
The British Journal of Ophthalmology
|
October 20, 2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
Robert H Henderson, Donna S Mackay, Zheng Li, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2025
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa
Mark J Hughes, Tina Lamey, Elena R Schiff, et al.
Retina (Philadelphia, Pa.)
|
October 17, 2024
THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease
Matthew P Simunovic, Anthony T Moore, John Grigg, et al.
Orphanet Journal of Rare Diseases
|
March 21, 2021
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Graeme C Black, Panagiotis Sergouniotis, Andrea Sodi, et al.
Scientific Reports
|
October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Page
of 1