Search

Author/Creator Ochi, Nobuhiko

1. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. Issue 4 (23rd January 2014)

Authors:
Fujita, Atsushi; Ochi, Nobuhiko; Fujimaki, Hidehiko; Muramatsu, Hideki; Takahashi, Yoshiyuki; Natsume, Jun; Kojima, Seiji; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 4(2014.)
Page Start:
998
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Issue 9 (2nd August 2013)

Authors:
Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun‐Ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2234
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Issue 9 (2nd August 2013)

Authors:
Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun‐Ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2234
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Mutations in HADHB, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. Issue 5 (24th March 2014)

Authors:
Naiki, Misako; Ochi, Nobuhiko; Kato, Yusuke S.; Purevsuren, Jamiyan; Yamada, Kenichiro; Kimura, Reiko; Fukushi, Daisuke; Hara, Shinya; Yamada, Yasukazu; Kumagai, Toshiyuki; Yamaguchi, Seiji; Wakamatsu, Nobuaki
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 5(2014.)
Page Start:
1180
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis. (January 2023)

Authors:
Suzuki, Takeshi; Ito, Yuji; Ito, Tadashi; Kidokoro, Hiroyuki; Noritake, Koji; Tsujimura, Keita; Saitoh, Shinji; Yamamoto, Hiroyuki; Ochi, Nobuhiko; Ishihara, Naoko; Yasui, Izumi; Sugiura, Hideshi; Nakata, Tomohiko; Natsume, Jun
Journal:
European journal of paediatric neurology
Issue:
Volume 42(2023)
Page Start:
15
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗