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Retina (Philadelphia, Pa.)
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February 8, 2020
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS
Laurence H M Pierrache, Babak Ghafaryasl, Muhammad I Khan, et al.
Investigative Ophthalmology & Visual Science
|
December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
Anneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
Investigative Ophthalmology & Visual Science
|
February 5, 2010
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype
Karin W Littink, Jan-Willem R Pott, Rob W J Collin, et al.
JAMA Ophthalmology
|
April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis
Stéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Investigative Ophthalmology & Visual Science
|
September 8, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290
Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, et al.
Investigative Ophthalmology & Visual Science
|
October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosis
Alejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Investigative Ophthalmology & Visual Science
|
June 18, 2010
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
Karin W Littink, Robert K Koenekoop, L Ingeborgh van den Born, et al.
NPJ Genomic Medicine
|
November 19, 2021
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, et al.
Plos One
|
August 6, 2011
Hypertension is associated with marked alterations in sphingolipid biology: a potential role for ceramide
Léon J A Spijkers, Rob F P van den Akker, Ben J A Janssen, et al.
Transplantation
|
August 31, 2023
Comparison of 2 Immunosuppression Minimization Strategies in Kidney Transplantation: The ALLEGRO Trial
Joost C van den Born, Soufian Meziyerh, Priya Vart, et al.
Page
of 72
Search research articles
Search
Showing results (641-650 of 717) with videos related to
Sort By:
Page
of 72
Retina (Philadelphia, Pa.)
|
February 8, 2020
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS
Laurence H M Pierrache, Babak Ghafaryasl, Muhammad I Khan, et al.
Investigative Ophthalmology & Visual Science
|
December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
Anneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
Investigative Ophthalmology & Visual Science
|
February 5, 2010
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype
Karin W Littink, Jan-Willem R Pott, Rob W J Collin, et al.
JAMA Ophthalmology
|
April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis
Stéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Investigative Ophthalmology & Visual Science
|
September 8, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290
Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, et al.
Investigative Ophthalmology & Visual Science
|
October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosis
Alejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Investigative Ophthalmology & Visual Science
|
June 18, 2010
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
Karin W Littink, Robert K Koenekoop, L Ingeborgh van den Born, et al.
NPJ Genomic Medicine
|
November 19, 2021
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, et al.
Plos One
|
August 6, 2011
Hypertension is associated with marked alterations in sphingolipid biology: a potential role for ceramide
Léon J A Spijkers, Rob F P van den Akker, Ben J A Janssen, et al.
Transplantation
|
August 31, 2023
Comparison of 2 Immunosuppression Minimization Strategies in Kidney Transplantation: The ALLEGRO Trial
Joost C van den Born, Soufian Meziyerh, Priya Vart, et al.
Page
of 72