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Investigative Ophthalmology & Visual Science
|
September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1
Gavin Arno, Sarah Hull, Keren Carss, et al.
American Journal of Human Genetics
|
March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
Sophie Scheidecker, Christelle Etard, Laurence Haren, et al.
Scientific Reports
|
January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, 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.
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.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 3, 2020
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association
Kaoru Fujinami, Xiao Liu, Shinji Ueno, et al.
Investigative Ophthalmology & Visual Science
|
August 8, 2019
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance
Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, 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.
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of 19
Search research articles
Search
Showing results (101-110 of 185) with videos related to
Sort By:
Page
of 19
Investigative Ophthalmology & Visual Science
|
September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1
Gavin Arno, Sarah Hull, Keren Carss, et al.
American Journal of Human Genetics
|
March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy
Sophie Scheidecker, Christelle Etard, Laurence Haren, et al.
Scientific Reports
|
January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, 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.
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.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 3, 2020
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association
Kaoru Fujinami, Xiao Liu, Shinji Ueno, et al.
Investigative Ophthalmology & Visual Science
|
August 8, 2019
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance
Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, 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.
Page
of 19