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American Journal of Human Genetics
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February 22, 2002
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
F Yesim K Demirci, Brian W Rigatti, Gaiping Wen, et al.
Pediatric Blood & Cancer
|
October 17, 2024
Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan
Emily Duan, Michael Robinson, Charles Davis, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2007
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping
George Thomas, Michael A Grassi, John R Lee, et al.
Molecular Vision
|
October 26, 2007
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy
Vivek S Yellore, M Ali Khan, Nirit Bourla, et al.
Experimental Eye Research
|
February 5, 2002
Concentric retinitis pigmentosa: clinicopathologic correlations
A H Milam, E B De Castro, J E Smith, et al.
Retina (Philadelphia, Pa.)
|
May 17, 2019
VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects
Mary E Aronow, Henry E Wiley, Alain Gaudric, et al.
Ophthalmic Research
|
November 20, 2010
Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic retinopathy in patients with type 1 diabetes
Bashira A Charles, Yvette P Conley, Guanjie Chen, et al.
Plos One
|
March 11, 2016
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
Samuel P Strom, Michael J Clark, Ariadna Martinez, et al.
JAMA Ophthalmology
|
October 4, 2019
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy
Unikora Yang, Susan Gentleman, Xiaowu Gai, et al.
Neurology
|
January 1, 1991
Central nervous system involvement in Von Hippel-Lindau disease
M R Filling-Katz, P L Choyke, E Oldfield, et al.
Page
of 18
Search research articles
Search
Showing results (121-130 of 175) with videos related to
Sort By:
Page
of 18
American Journal of Human Genetics
|
February 22, 2002
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15
F Yesim K Demirci, Brian W Rigatti, Gaiping Wen, et al.
Pediatric Blood & Cancer
|
October 17, 2024
Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan
Emily Duan, Michael Robinson, Charles Davis, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2007
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping
George Thomas, Michael A Grassi, John R Lee, et al.
Molecular Vision
|
October 26, 2007
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy
Vivek S Yellore, M Ali Khan, Nirit Bourla, et al.
Experimental Eye Research
|
February 5, 2002
Concentric retinitis pigmentosa: clinicopathologic correlations
A H Milam, E B De Castro, J E Smith, et al.
Retina (Philadelphia, Pa.)
|
May 17, 2019
VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects
Mary E Aronow, Henry E Wiley, Alain Gaudric, et al.
Ophthalmic Research
|
November 20, 2010
Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic retinopathy in patients with type 1 diabetes
Bashira A Charles, Yvette P Conley, Guanjie Chen, et al.
Plos One
|
March 11, 2016
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
Samuel P Strom, Michael J Clark, Ariadna Martinez, et al.
JAMA Ophthalmology
|
October 4, 2019
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy
Unikora Yang, Susan Gentleman, Xiaowu Gai, et al.
Neurology
|
January 1, 1991
Central nervous system involvement in Von Hippel-Lindau disease
M R Filling-Katz, P L Choyke, E Oldfield, et al.
Page
of 18