Search research articles
Contact Us
Filters
Showing results (1051-1060 of 1,250) with videos related to
Page
of 125
Sort By:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
Elena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
Ophthalmology
|
October 24, 2013
Retinal structure and function in achromatopsia: implications for gene therapy
Venki Sundaram, Caroline Wilde, Jonathan Aboshiha, et al.
American Journal of Human Genetics
|
January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
Rosemary Burgess, Ian D Millar, Bart P Leroy, et al.
Human Mutation
|
October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
Alessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
Science (New York, N.Y.)
|
April 9, 2001
Control of nitrogen export from watersheds by headwater streams
B J Peterson, W M Wollheim, P J Mulholland, et al.
Clinical Pharmacology and Therapeutics
|
April 1, 2011
The innate immune response, clinical outcomes, and ex vivo HCV antiviral efficacy of a TLR7 agonist (PF-4878691)
M D Fidock, B E Souberbielle, C Laxton, et al.
Ophthalmology
|
May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina
|
January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, 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.
American Journal of Human Genetics
|
December 23, 2006
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
James S Friedman, Bo Chang, Chitra Kannabiran, et al.
Page
of 125
Search research articles
Search
Showing results (1051-1060 of 1,250) with videos related to
Sort By:
Page
of 125
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
Elena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
Ophthalmology
|
October 24, 2013
Retinal structure and function in achromatopsia: implications for gene therapy
Venki Sundaram, Caroline Wilde, Jonathan Aboshiha, et al.
American Journal of Human Genetics
|
January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
Rosemary Burgess, Ian D Millar, Bart P Leroy, et al.
Human Mutation
|
October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
Alessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
Science (New York, N.Y.)
|
April 9, 2001
Control of nitrogen export from watersheds by headwater streams
B J Peterson, W M Wollheim, P J Mulholland, et al.
Clinical Pharmacology and Therapeutics
|
April 1, 2011
The innate immune response, clinical outcomes, and ex vivo HCV antiviral efficacy of a TLR7 agonist (PF-4878691)
M D Fidock, B E Souberbielle, C Laxton, et al.
Ophthalmology
|
May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina
|
January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, 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.
American Journal of Human Genetics
|
December 23, 2006
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
James S Friedman, Bo Chang, Chitra Kannabiran, et al.
Page
of 125