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Author/Creator Fujimaru, Takuya

1. A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4. Issue 6 (1st May 2019)

Authors:
Sakoh, Takashi; Sekine, Akinari; Mori, Takayasu; Mizuno, Hiroki; Kawada, Masahiro; Hiramatsu, Rikako; Hasegawa, Eiko; Hayami, Noriko; Yamanouchi, Masayuki; Suwabe, Tatsuya; Sawa, Naoki; Ubara, Yoshifumi; Fujimaru, Takuya; Sohara, Eisei; Shinichi, Uchida; Hoshino, Junichi; Takaichi, Kenmei
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 6(2019)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood. Issue 3 (31st December 2020)

Authors:
Mori, Takayasu; Chiga, Motoko; Fujimaru, Takuya; Kawamoto, Ryosuke; Mandai, Shintaro; Nanamatsu, Azuma; Nomura, Naohiro; Ando, Fumiaki; Susa, Koichiro; Sohara, Eisei; Rai, Tatemitsu; Uchida, Shinichi
Journal:
Human mutation
Issue:
Volume 42:Issue 3(2021)
Page Start:
300
Record Type:
Journal Article
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4. PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion. Issue 2 (9th January 2019)

Authors:
Watanabe, Saki; Ino, Jun; Fujimaru, Takuya; Taneda, Sekiko; Akihisa, Taro; Makabe, Shiho; Kataoka, Hiroshi; Mori, Takayasu; Sohara, Eisei; Uchida, Shinichi; Nitta, Kosaku; Mochizuki, Toshio
Journal:
Clinical case reports
Issue:
Volume 7:Issue 2(2019)
Page Start:
336
Record Type:
Journal Article
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