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American Journal of Human Genetics
|
December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
Christina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.
JAMA Ophthalmology
|
October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
Laura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Applied Clinical Informatics
|
September 11, 2024
Developing PRISM: A Pragmatic Institutional Survey and Bench Marking Tool to Measure Digital Research Maturity of Cancer Centers
Carlos Berenguer Albiñana, Matteo Pallocca, Hayley Fenton, et al.
JCI Insight
|
September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.
Human Genetics
|
January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
American Journal of Ophthalmology
|
December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features
Gaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
JAMA Ophthalmology
|
April 9, 2026
Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy
Cléis Beaulieu, Aymane Bouzidi, Valérie Desquiret-Dumas, et al.
Human Genetics
|
February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
American Journal of Human Genetics
|
September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophies
Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology
|
January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
Beatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
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of 85
Search research articles
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Showing results (811-820 of 844) with videos related to
Sort By:
Page
of 85
American Journal of Human Genetics
|
December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
Christina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.
JAMA Ophthalmology
|
October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
Laura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Applied Clinical Informatics
|
September 11, 2024
Developing PRISM: A Pragmatic Institutional Survey and Bench Marking Tool to Measure Digital Research Maturity of Cancer Centers
Carlos Berenguer Albiñana, Matteo Pallocca, Hayley Fenton, et al.
JCI Insight
|
September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.
Human Genetics
|
January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
American Journal of Ophthalmology
|
December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features
Gaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
JAMA Ophthalmology
|
April 9, 2026
Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy
Cléis Beaulieu, Aymane Bouzidi, Valérie Desquiret-Dumas, et al.
Human Genetics
|
February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Lisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
American Journal of Human Genetics
|
September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophies
Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology
|
January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
Beatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Page
of 85