Acoustic phonon modes and phononic bandgaps in GaN/AlN nanowire superlattices

por Mizuno, Seiji
Publicado 2012

Developmental changes in mental rotation ability and visual perspective-taking in children and adults with Williams syndrome

por Hirai, Masahiro, Muramatsu, Yukako, Mizuno, Seiji, Kurahashi, Naoko, Kurahashi, Hirokazu, Nakamura, Miho
Publicado 2013

Typical visual search performance and atypical gaze behaviors in response to faces in Williams syndrome

por Hirai, Masahiro, Muramatsu, Yukako, Mizuno, Seiji, Kurahashi, Naoko, Kurahashi, Hirokazu, Nakamura, Miho
Publicado 2016

Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye trac...

por Hirai, Masahiro, Muramatsu, Yukako, Mizuno, Seiji, Kurahashi, Naoko, Kurahashi, Hirokazu, Nakamura, Miho
Publicado 2017

Atypical Sotos syndrome caused by a novel splice site variant

por Minatogawa, Mari, Tsuji, Taichi, Inaba, Mie, Kawakami, Noriaki, Mizuno, Seiji, Kosho, Tomoki
Publicado 2022

Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia

por Shen, Xin‐Ming, Nakata, Tomohiko, Mizuno, Seiji, Imoto, Issei, Selcen, Duygu, Ohno, Kinji, Engel, Andrew G.
Publicado 2023

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype

por Kagami, Masayo, Mizuno, Seiji, Matsubara, Keiko, Nakabayashi, Kazuhiko, Sano, Shinichiro, Fuke, Tomoko, Fukami, Maki, Ogata, Tsutomu
Publicado 2015

The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)

por Suzuki, Yasuyo, Enokido, Yasushi, Yamada, Kenichiro, Inaba, Mie, Kuwata, Kumiko, Hanada, Naoki, Morishita, Tsuyoshi, Mizuno, Seiji, Wakamatsu, Nobuaki
Publicado 2017

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

por Shimbo, Hiroko, Yokoi, Takayuki, Aida, Noriko, Mizuno, Seiji, Suzumura, Hiroshi, Nagai, Junichi, Ida, Kazumi, Enomoto, Yumi, Hatano, Chihiro, Kurosawa, Kenji
Publicado 2017

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

por Mishima, Kenichi, Fujita, Atsushi, Mizuno, Seiji, Matsushita, Masaki, Nagata, Tadashi, Kamiya, Yasunari, Miyake, Noriko, Matsumoto, Naomichi, Imagama, Shiro, Kitoh, Hiroshi
Publicado 2020

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome

por Shimojima, Keiko, Ondo, Yumiko, Nishi, Eriko, Mizuno, Seiji, Ito, Miharu, Ioi, Aya, Shimizu, Mariko, Sato, Maho, Inoue, Masami, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Publicado 2016

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP...

por Hayashi, Shin, Uehara, Daniela Tiaki, Tanimoto, Kousuke, Mizuno, Seiji, Chinen, Yasutsugu, Fukumura, Shinobu, Takanashi, Jun-ichi, Osaka, Hitoshi, Okamoto, Nobuhiko, Inazawa, Johji
Publicado 2017

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

por Kagami, Masayo, Nagasaki, Keisuke, Kosaki, Rika, Horikawa, Reiko, Naiki, Yasuhiro, Saitoh, Shinji, Tajima, Toshihiro, Yorifuji, Tohru, Numakura, Chikahiko, Mizuno, Seiji, Nakamura, Akie, Matsubara, Keiko, Fukami, Maki, Ogata, Tsutomu
Publicado 2017

Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

por Nishida, Yoshihiro, Ikuta, Kunihiro, Natsume, Atsushi, Ishihara, Naoko, Morikawa, Maki, Kidokoro, Hiroyuki, Muramatsu, Yukako, Nonobe, Norie, Ishizuka, Kanako, Takeichi, Takuya, Kanbe, Miki, Mizuno, Seiji, Imagama, Shiro, Ozaki, Norio
Publicado 2021

Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome

por Teraishi, Mika, Takaishi, Mikiro, Nakajima, Kimiko, Ikeda, Mitsunori, Higashi, Yujiro, Shimoda, Shinji, Asada, Yoshinobu, Hijikata, Atsushi, Ohara, Osamu, Hiraki, Yoko, Mizuno, Seiji, Fukada, Toshiyuki, Furukawa, Takahisa, Wakamatsu, Nobuaki, Sano, Shigetoshi
Publicado 2017

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

por Sugimoto, Takeshi, Inagaki, Hidehito, Mariya, Tasuku, Kawamura, Rie, Taniguchi-Ikeda, Mariko, Mizuno, Seiji, Muramatsu, Yukako, Tsuge, Ikuya, Ohashi, Hirofumi, Saito, Nakamichi, Hasegawa, Yuiko, Ochi, Nobuhiko, Yamaguchi, Masatoshi, Murotsuki, Jun, Kurahashi, Hiroki
Publicado 2023

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

por Inoue, Takanobu, Nakamura, Akie, Fuke, Tomoko, Yamazawa, Kazuki, Sano, Shinichiro, Matsubara, Keiko, Mizuno, Seiji, Matsukura, Yoshika, Harashima, Chie, Hasegawa, Tatsuji, Nakajima, Hisakazu, Tsumura, Kumi, Kizaki, Zenro, Oka, Akira, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Publicado 2017

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

por Fuke, Tomoko, Mizuno, Seiji, Nagai, Toshiro, Hasegawa, Tomonobu, Horikawa, Reiko, Miyoshi, Yoko, Muroya, Koji, Kondoh, Tatsuro, Numakura, Chikahiko, Sato, Seiji, Nakabayashi, Kazuhiko, Tayama, Chiharu, Hata, Kenichiro, Sano, Shinichiro, Matsubara, Keiko, Kagami, Masayo, Yamazawa, Kazuki, Ogata, Tsutomu
Publicado 2013

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

por Otsuji, Shiomi, Nishio, Yosuke, Tsujita, Maki, Rio, Marlene, Huber, Céline, Antón-Plágaro, Carlos, Mizuno, Seiji, Kawano, Yoshihiko, Miyatake, Satoko, Simon, Marleen, van Binsbergen, Ellen, van Jaarsveld, Richard H, Matsumoto, Naomichi, Cormier-Daire, Valerie, J.Cullen, Peter, Saitoh, Shinji, Kato, Kohji
Publicado 2023

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

por Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Johmura, Yoshikazu, Nakagawa, Motoo, Ando, Naoki, Hori, Ikumi, Togawa, Takao, Aoyama, Kohei, Ohashi, Kei, Fukumura, Shinobu, Mizuno, Seiji, Umemura, Ayako, Kishimoto, Yoko, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Nakanishi, Makoto, Saitoh, Shinji
Publicado 2017