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Kaoru Fujinami

Showing results (121-130 of 148) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 3, 2020
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype associationKaoru Fujinami, Xiao Liu, Shinji Ueno, et al.
Investigative Ophthalmology & Visual Science|August 8, 2019
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic AppearanceShuhei Kameya, Kaoru Fujinami, Shinji Ueno, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
Investigative Ophthalmology & Visual Science|January 24, 2024
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular DystrophyKaoru Fujinami, Shuhei Kameya, Sachiko Kikuchi, et al.
Scientific Reports|June 14, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationYu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Human Genome Variation|January 18, 2019
Novel mutations in the <i>RS1</i> gene in Japanese patients with X-linked congenital retinoschisisHiroyuki Kondo, Kazuma Oku, Satoshi Katagiri, et al.
Translational Vision Science & Technology|August 22, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal DisorderXiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Scientific Reports|March 29, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele FrequencyLizhu Yang, Kaoru Fujinami, Shinji Ueno, et al.
The British Journal of Ophthalmology|June 22, 2018
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8Kaoru Fujinami, Rupert W Strauss, John Pei-Wen Chiang, et al.
Pageof 15

Showing results (121-130 of 148) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 3, 2020
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype associationKaoru Fujinami, Xiao Liu, Shinji Ueno, et al.
Investigative Ophthalmology & Visual Science|August 8, 2019
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic AppearanceShuhei Kameya, Kaoru Fujinami, Shinji Ueno, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
Investigative Ophthalmology & Visual Science|January 24, 2024
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular DystrophyKaoru Fujinami, Shuhei Kameya, Sachiko Kikuchi, et al.
Scientific Reports|June 14, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationYu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Human Genome Variation|January 18, 2019
Novel mutations in the <i>RS1</i> gene in Japanese patients with X-linked congenital retinoschisisHiroyuki Kondo, Kazuma Oku, Satoshi Katagiri, et al.
Translational Vision Science & Technology|August 22, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal DisorderXiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Scientific Reports|March 29, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele FrequencyLizhu Yang, Kaoru Fujinami, Shinji Ueno, et al.
The British Journal of Ophthalmology|June 22, 2018
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8Kaoru Fujinami, Rupert W Strauss, John Pei-Wen Chiang, et al.
Pageof 15