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John P W Chiang

Showing results (1-10 of 6) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2018
Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance allelesNicholas K Wang, John P W Chiang
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 10, 2019
Response to CodyNicholas K Wang, John P W Chiang
Molecular Vision|October 26, 2022
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotypingPriya R Gupta, Wajiha Kheir, Bo Peng, et al.
Retinal Cases & Brief Reports|October 19, 2017
CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1Jesse D Sengillo, Winston Lee, Mathieu F Bakhoum, et al.
American Journal of Medical Genetics. Part A|January 3, 2023
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosisAmani Albakri, Phattrawan Pisuchpen, Jenina E Capasso, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy CohortJohn P W Chiang, Tina M Lamey, Nicholas K Wang, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2018
Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance allelesNicholas K Wang, John P W Chiang
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 10, 2019
Response to CodyNicholas K Wang, John P W Chiang
Molecular Vision|October 26, 2022
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotypingPriya R Gupta, Wajiha Kheir, Bo Peng, et al.
Retinal Cases & Brief Reports|October 19, 2017
CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1Jesse D Sengillo, Winston Lee, Mathieu F Bakhoum, et al.
American Journal of Medical Genetics. Part A|January 3, 2023
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosisAmani Albakri, Phattrawan Pisuchpen, Jenina E Capasso, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy CohortJohn P W Chiang, Tina M Lamey, Nicholas K Wang, et al.
Pageof 1