Masuda, Kiyoshi
103  results:
Search for persons X
?
1

circRNA : A New Biomarker and Therapeutic Target for Esopha..:

Shoda, Katsutoshi ; Kuwano, Yuki ; Ichikawa, Daisuke.
http://repo.lib.tokushima-u.ac.jp/files/public/11/117801/20221206091648869219/biomed_10_7_1643.pdf.  , 2023
 
?
3

Functionally confirmed compound heterozygous ADAM17 missens..:

Imoto, Issei ; Saito, Masako ; Suga, Kenichi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/116631/2021122814402056750/srep_11_9552.pdf.  , 2022
 
?
4

A novel missense mutation of COL5A2 in a patient with Ehler..:

Watanabe, Miki ; Nakagawa, Ryuji ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115132/20200825160045210599/hgv_3_16030.pdf.  , 2021
 
?
5

Novel CLCN7 compound heterozygous mutations in intermediate..:

Okamoto, Nana ; Kohmoto, Tomohiro ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115120/20200821165409153681/hgv_4_17036.pdf.  , 2021
 
?
6

The first Japanese patient with mandibular hypoplasia, deaf..:

Okada, Asami ; Kohmoto, Tomohiro ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115129/20200825153653706653/hgv_4_17031.pdf.  , 2021
 
?
8

A novel COL11A1 missense mutation in siblings with non-ocul..:

Kohmoto, Tomohiro ; Tsuji, Atsumi ; Morita, Kei-ichi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115134/20200825162151459153/hgv_3_16003.pdf.  , 2021
 
?
9

Genome-first approach diagnosed Cabezas syndrome via novel ..:

Okamoto, Nobuhiko ; Watanabe, Miki ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115130/20200825154433441088/hgv_4_16045.pdf.  , 2021
 
?
10

Detection of 1p36 deletion by clinical exome-first diagnost..:

Watanabe, Miki ; Hayabuchi, Yasunobu ; Ono, Akemi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115133/20200825160933873146/hgv_3_16006.pdf.  , 2021
 
?
11

A novel frameshift mutation of CHD7 in a Japanese patient w..:

Kohmoto, Tomohiro ; Shono, Miki ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115135/20200825164318702506/hgv_3_16004.pdf.  , 2021
 
?
12

Exome-first approach identified a novel gloss deletion asso..:

Watanabe, Miki ; Nakagawa, Ryuji ; Kohmoto, Tomohiro...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115131/20200825155404941697/hgv_3_16037.pdf.  , 2021
 
?
13

Deep intronic GPR143 mutation in a Japanese family with ocu..:

Naruto, Takuya ; Okamoto, Nobuhiko ; Masuda, Kiyoshi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/114973/20200717155115733945/srep_5_11334.pdf.  , 2020
 
1-15