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Hosono, Katsuhiro
67
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Online (67)
Mediatypes
Articles (Online) (40)
OpenAccess-fulltext (27)
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1
A pediatric case of congenital stromal corneal dystrophy ca..:
Morikawa, Hazuki
;
Nishina, Sachiko
;
Torii, Kaoruko
...
Human Genome Variation. 10 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
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2
Retinitis pigmentosa with optic neuropathy and COQ2 mutatio..:
Kurata, Kentaro
;
Hosono, Katsuhiro
;
Takayama, Masakazu
...
American Journal of Ophthalmology Case Reports. 25 (2022) - p. 101298 , 2022
Link:
https://doi.org/10.1016/..
?
3
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Pat..:
Tachibana, Nobutaka
;
Hosono, Katsuhiro
;
Nomura, Shuhei
...
Genes. 13 (2022) 2 - p. 359 , 2022
Link:
https://doi.org/10.3390/..
?
4
Exophthalmos associated with chronic progressive external o..:
Takeda, Yu
;
Suzuki, Hiroko
;
Hosono, Katsuhiro
...
Japanese Journal of Ophthalmology. 66 (2022) 3 - p. 314-319 , 2022
Link:
https://doi.org/10.1007/..
?
5
De novo heterozygous variants in KIF5B cause kyphomelic dys..:
Itai, Toshiyuki
;
Wang, Zheng
;
Nishimura, Gen
...
Clinical Genetics. 102 (2022) 1 - p. 3-11 , 2022
Link:
https://doi.org/10.1111/..
?
6
Genotype-Phenotype Correlations in RP1-Associated Retinal D..:
Mizobuchi, Kei
;
Hayashi, Takaaki
;
Oishi, Noriko
...
Journal of Clinical Medicine. 10 (2021) 11 - p. 2265 , 2021
Link:
https://doi.org/10.3390/..
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7
Retinal Features of Family Members With Familial Exudative ..:
Kondo, Hiroyuki
;
Matsushita, Itsuka
;
Nagata, Tatsuo
...
Translational Vision Science & Technology. 10 (2021) 7 - p. 18 , 2021
Link:
https://doi.org/10.1167/..
?
8
Biallelic CDK9 variants as a cause of a new multiple-malfor..:
Nishina, Sachiko
;
Hosono, Katsuhiro
;
Ishitani, Shizuka
...
Journal of Human Genetics. 66 (2021) 10 - p. 1021-1027 , 2021
Link:
https://doi.org/10.1038/..
?
9
Identification of susceptibility loci for light-induced vis..:
Ohishi, Kentaro
;
Hosono, Katsuhiro
;
Obana, Akira
...
Experimental Eye Research. 210 (2021) - p. 108688 , 2021
Link:
https://doi.org/10.1016/..
?
10
Correction to: Analysis of IKBKG/NEMO gene in five Japanese..:
Haque, Muhammad Nazmul
;
Ohtsubo, Masafumi
;
Nishina, Sachiko
...
Journal of Human Genetics. 66 (2021) 6 - p. 645-645 , 2021
Link:
https://doi.org/10.1038/..
?
11
Sensorineural hearing loss and hypoplastic cochlea in Axenf..:
Yamazaki, Hiroshi
;
Nakamura, Takeshi
;
Hosono, Katsuhiro
...
Auris Nasus Larynx. 48 (2021) 6 - p. 1204-1208 , 2021
Link:
https://doi.org/10.1016/..
?
12
Regional differences in genes and variants causing retiniti..:
Koyanagi, Yoshito
;
Akiyama, Masato
;
Nishiguchi, Koji M
...
Japanese Journal of Ophthalmology. 65 (2021) 3 - p. 338-343 , 2021
Link:
https://doi.org/10.1007/..
?
13
Long‐term observation of a Japanese mucolipidosis IV patien..:
Hayashi, Takaaki
;
Hosono, Katsuhiro
;
Kubo, Akiko
...
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1500-1505 , 2020
Link:
https://doi.org/10.1002/..
?
14
Analysis of IKBKG/NEMO gene in five Japanese cases of incon..:
Haque, Muhammad Nazmul
;
Ohtsubo, Masafumi
;
Nishina, Sachiko
...
Journal of Human Genetics. 66 (2020) 2 - p. 205-214 , 2020
Link:
https://doi.org/10.1038/..
?
15
Novel biallelic splice-site BBS1 variants in Bardet–Biedle ..:
Katagiri, Satoshi
;
Hosono, Katsuhiro
;
Hayashi, Takaaki
...
Documenta Ophthalmologica. 141 (2020) 1 - p. 77-88 , 2020
Link:
https://doi.org/10.1007/..
1-15