Search

Author/Creator Mabe, Hiroyo

4. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus. Issue 6 (25th May 2012)

Authors:
Santen, Gijs W E; Sun, Yu; Gijsbers, Antoinet C J; Carré, Aurore; Holvoet, Maureen; Haeringen, Arie van; Lesnik Oberstein, Saskia A J; Tomoda, Akemi; Mabe, Hiroyo; Polak, Michel; Devriendt, Koenraad; Ruivenkamp, Claudia A L; Bijlsma, Emilia K
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
366
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. 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) ↗

6. 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) ↗

7. NEUROD1‐deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. Issue 2 (30th June 2017)

Authors:
Horikawa, Yukio; Enya, Mayumi; Mabe, Hiroyo; Fukushima, Kei; Takubo, Noriyuki; Ohashi, Masaaki; Ikeda, Fuki; Hashimoto, Ken‐ichi; Watada, Hirotaka; Takeda, Jun
Journal:
Pediatric diabetes
Issue:
Volume 19:Issue 2(2018)
Page Start:
236
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗