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Kaoru Fujinami

Showing results (51-60 of 148) with videos related to

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Genes|July 29, 2023
Functional Characteristics of Diverse <i>PAX6</i> Mutations Associated with Isolated Foveal HypoplasiaItsuka Matsushita, Hiroto Izumi, Shinji Ueno, et al.
American Journal of Ophthalmology|December 9, 2019
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease SymmetryMichalis Georgiou, Thomas Kane, Preena Tanna, et al.
Ophthalmology and Therapy|December 19, 2023
Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and BeyondAnand Singh Brar, Deepika C Parameswarappa, Brijesh Takkar, et al.
Ophthalmology|November 25, 2021
X-Linked Retinoschisis: Deep Phenotyping and Genetic CharacterizationMichalis Georgiou, Lucia Finocchio, Kaoru Fujinami, et al.
American Journal of Ophthalmology Case Reports|January 9, 2019
Clinical findings of end-stage retinitis pigmentosa with a homozygous <i>PDE6A</i> variant (p.R653X)Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, et al.
Human Genome Variation|December 18, 2021
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorderKazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, et al.
Nippon Ganka Gakkai Zasshi|September 26, 2013
[Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram]Natsuko Nakamura, Kazushige Tsunoda, Kaoru Fujinami, et al.
Plos One|April 10, 2020
Phenogenon: Gene to phenotype associations for rare genetic diseasesNikolas Pontikos, Cian Murphy, Ismail Moghul, et al.
Retina (Philadelphia, Pa.)|October 12, 2018
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHYAyami Nakanishi, Shinji Ueno, Takaaki Hayashi, et al.
Retina (Philadelphia, Pa.)|April 3, 2012
Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 geneKazushige Tsunoda, Tomoaki Usui, Tetsuhisa Hatase, et al.
Pageof 15

Showing results (51-60 of 148) with videos related to

Sort By:
Pageof 15
Genes|July 29, 2023
Functional Characteristics of Diverse <i>PAX6</i> Mutations Associated with Isolated Foveal HypoplasiaItsuka Matsushita, Hiroto Izumi, Shinji Ueno, et al.
American Journal of Ophthalmology|December 9, 2019
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease SymmetryMichalis Georgiou, Thomas Kane, Preena Tanna, et al.
Ophthalmology and Therapy|December 19, 2023
Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and BeyondAnand Singh Brar, Deepika C Parameswarappa, Brijesh Takkar, et al.
Ophthalmology|November 25, 2021
X-Linked Retinoschisis: Deep Phenotyping and Genetic CharacterizationMichalis Georgiou, Lucia Finocchio, Kaoru Fujinami, et al.
American Journal of Ophthalmology Case Reports|January 9, 2019
Clinical findings of end-stage retinitis pigmentosa with a homozygous <i>PDE6A</i> variant (p.R653X)Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, et al.
Human Genome Variation|December 18, 2021
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorderKazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, et al.
Nippon Ganka Gakkai Zasshi|September 26, 2013
[Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram]Natsuko Nakamura, Kazushige Tsunoda, Kaoru Fujinami, et al.
Plos One|April 10, 2020
Phenogenon: Gene to phenotype associations for rare genetic diseasesNikolas Pontikos, Cian Murphy, Ismail Moghul, et al.
Retina (Philadelphia, Pa.)|October 12, 2018
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHYAyami Nakanishi, Shinji Ueno, Takaaki Hayashi, et al.
Retina (Philadelphia, Pa.)|April 3, 2012
Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 geneKazushige Tsunoda, Tomoaki Usui, Tetsuhisa Hatase, et al.
Pageof 15