E-LIB Suche - Ergebnisse für: Hosono, Katsuhiro

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/..

2

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/..

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

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/..

5

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/..

6

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/..

7

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/..

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

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/..

10

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/..

11

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/..

12

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/..

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

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/..

15

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/..