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Author/Creator Fujimaki, Takuro

1. Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing. Issue 12 (7th November 2022)

Authors:
Suga, Akiko; Yoshitake, Kazutoshi; Minematsu, Naoko; Tsunoda, Kazushige; Fujinami, Kaoru; Miyake, Yozo; Kuniyoshi, Kazuki; Hayashi, Takaaki; Mizobuchi, Kei; Ueno, Shinji; Terasaki, Hiroko; Kominami, Taro; Nao‐I, Nobuhisa; Mawatari, Go; Mizota, Atsushi; Shinoda, Kei; Kondo, Mineo; Kato, Kumiko; Se...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2251
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1. Issue 12 (1st October 2015)

Authors:
Coppieters, Frauke; Todeschini, Anne Laure; Fujimaki, Takuro; Baert, Annelot; De Bruyne, Marieke; Van Cauwenbergh, Caroline; Verdin, Hannah; Bauwens, Miriam; Ongenaert, Maté; Kondo, Mineo; Meire, Françoise; Murakami, Akira; Veitia, Reiner A.; Leroy, Bart P.; De Baere, Elfride
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1188
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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