Takanobu Otomo

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 7

Top Topics

Postmenopausal Women

Bone Mineral Density

Intellectual Disability

Top Venues

International journal of molecular sciences

Human genome variation

This page only lists publications with an associated author ORCID identifier.

Publications

Viktoriia Sofronova, Lyutsiya Gotovtseva, Anastasia Danilova, Aitalina Sukhomyasova, Takahito Moriwaki, Seigo Terawaki, Takanobu Otomo, Nadezhda Maksimova
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS). Genes 14 (8) (2023)
Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova, Hiroko Fukamatsu, Takenobu Yamamoto, Yumi Aoyama, Polina Golikova, Gavril Moskvitin, Roza Ivanova, Mira Savvina, Filipp Vasilev, Takahito Moriwaki, Seigo Terawaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. International journal of molecular sciences 24 (6) (2023)
Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay. Human genome variation 10 (1) (2023)
Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova, Hiroko Fukamatsu, Takenobu Yamamoto, Yumi Aoyama, Polina Golikova, Gavril Moskvitin, Roza Ivanova, Mira Savvina, Filipp Vasilev, Takahito Moriwaki, Seigo Terawaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. International journal of molecular sciences 24 (6) (2023)
Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova, Hiroko Fukamatsu, Takenobu Yamamoto, Yumi Aoyama, Polina Golikova, Gavril Moskvitin, Roza Ivanova, Mira Savvina, Filipp Vasilev, Takahito Moriwaki, Seigo Terawaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. International journal of molecular sciences 24 (6) (2023)
Viktoriia Sofronova, Rina Iwata, Takuya Moriya, Kiunniai Loskutova, Elizaveta Gurinova, Mairanush Chernova, Anastasia Timofeeva, Anna Shvedova, Filipp Vasilev, Saina Novgorodova, Seigo Terawaki, Takahito Moriwaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome. International journal of molecular sciences 23 (10) (2022)
Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. Human genome variation 9 (1) (2022)