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ArticlesPeer ReviewedFull Text
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
Author / Creator:Arai, Yuto ; Okanishi, Tohru ; Okazaki, Tetsuya ; Awano, Hiroyuki ; Seyama, Rie ; Uchiyama, Yuri ; Matsumoto, Naomichi ; Tamasaki, Akiko ; Maegaki, Yoshihiro
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-05, Vol.24 (1), p.308-308, Article 308
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Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Author / Creator:Iwama, Kazuhiro ; Mizuguchi, Takeshi ; Takeshita, Eri ; Nakagawa, Eiji ; Okazaki, Tetsuya ; Nomura, Yoshiko ; Iijima, Yoshitaka ; Kajiura, Ichiro ; Sugai, Kenji ; Saito, Takashi ; Sasaki, Masayuki ; Yuge, Kotaro ; Saikusa, Tomoko ; Okamoto, Nobuhiko ; Takahashi, Satoru ; Amamoto, Masano ; Tomita, Ichiro ; Kumada, Satoko ; Anzai, Yuki ; Hoshino, Kyoko ; Fattal-Valevski, Aviva ; Shiroma, Naohide ; Ohfu, Masaharu ; Moroto, Masaharu ; Tanda, Koichi ; Nakagawa, Tomoko ; Sakakibara, Takafumi ; Nabatame, Shin ; Matsuo, Muneaki ; Yamamoto, Akiko ; Yukishita, Shoko ; Inoue, Ken ; Waga, Chikako ; Nakamura, Yoko ; Watanabe, Shoko ; Ohba, Chihiro ; Sengoku, Toru ; Fujita, Atsushi ; Mitsuhashi, Satomi ; Miyatake, Satoko ; Takata, Atsushi ; Miyake, Noriko ; Ogata, Kazuhiro ; Ito, Shuichi ; Saitsu, Hirotomo ; Matsuishi, Toyojiro ; Goto, Yu-ichi ; Matsumoto, Naomichi
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2019-06, Vol.56 (6), p.396-407
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ArticlesPeer ReviewedFull Text
Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease
Author / Creator:Mena-Barragán, Teresa ; García-Moreno, M. Isabel ; Sevšek, Alen ; Okazaki, Tetsuya ; Nanba, Eiji ; Higaki, Katsumi ; Martin, Nathaniel I. ; Pieters, Roland J. ; Fernández, José M. García ; Mellet, Carmen Ortiz
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2018-04, Vol.23 (4), p.927
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ArticlesPeer ReviewedFull Text
Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study
Author / Creator:Futagawa, Mashu ; Okazaki, Tetsuya ; Nakata, Eiji ; Fukano, Chika ; Osumi, Risa ; Kato, Fumino ; Urakawa, Yusaku ; Yamamoto, Hideki ; Ozaki, Toshifumi ; Hirasawa, Akira
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2024-11, Vol.11 (1), p.42-7, Article 42
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ArticlesPeer ReviewedFull Text
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
Author / Creator:Okazaki, Tetsuya ; Yamada, Hiroyuki ; Matsuura, Kaori ; Kasagi, Noriko ; Miyake, Noriko ; Matsumoto, Naomichi ; Adachi, Kaori ; Nanba, Eiji ; Maegaki, Yoshihiro
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2021-07, Vol.8 (1), p.26-26, Article 26
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ArticlesPeer ReviewedFull Text
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
Author / Creator:Okazaki, Tetsuya ; Kawaguchi, Tatsuya ; Saiki, Yusuke ; Aoki, Chisako ; Kasagi, Noriko ; Adachi, Kaori ; Saida, Ken ; Matsumoto, Naomichi ; Nanba, Eiji ; Maegaki, Yoshihiro
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2022-05, Vol.9 (1), p.14-14, Article 14
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ArticlesPeer ReviewedFull Text
Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
Author / Creator:Okazaki, Tetsuya ; Matsuura, Kaori ; Kasagi, Noriko ; Adachi, Kaori ; Kai, Masachika ; Okubo, Mariko ; Nishino, Ichizo ; Nanba, Eiji ; Maegaki, Yoshihiro
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2020-04, Vol.7 (1), p.12-12, Article 12
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ArticlesPeer ReviewedFull Text
Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series
Author / Creator:Baba, Shimpei ; Okanishi, Tohru ; Homma, Yoichiro ; Yoshida, Takeshi ; Goto, Tomohide ; Fukasawa, Tatsuya ; Kobayashi, Satoru ; Kamei, Atsushi ; Fujii, Yuji ; Hino‐Fukuyo, Naomi ; Yamada, Keitaro ; Daida, Atsuro ; Kawawaki, Hisashi ; Hoshino, Hideki ; Sejima, Hitoshi ; Ishida, Yusuke ; Okazaki, Tetsuya ; Inui, Takehiko ; Kanai, Sotaro ; Motoi, Hirotaka ; Itamura, Shinji ; Nishimura, Mitsuyo ; Enoki, Hideo ; Fujimoto, Ayataka
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2021-06, Vol.6 (2), p.402-412
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ArticlesPeer ReviewedFull Text
EFFECTS OF MILD AEROBIC EXERCISE AND A MILD HYPOCALORIC DIET ON PLASMA LEPTIN IN SEDENTARY WOMEN
Author / Creator:Okazaki, Tetsuya ; Himeno, Etsuro ; Nanri, Hiroki ; Ogata, Hajime ; Ikeda, Masaharu
Publisher:Melbourne, Australia: Blackwell Science Pty
Journal title:Clinical and experimental pharmacology & physiology, 1999-05, Vol.26 (5-6), p.415-420
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ArticlesPeer ReviewedFull Text
Adequacy evaluation of 22‐gauge needle endoscopic ultrasound‐guided tissue acquisition samples and glass slides preparation for successful comprehensive genomic profiling testing: A single institute e...
Author / Creator:Nagatani, Tami ; Wani, Yoji ; Takatani, Masahiro ; Fushimi, Soichiro ; Inoue, Hirofumi ; Hori, Shinichiro ; Kai, Kyohei ; Yamamoto, Hideki ; Okazaki, Tetsuya ; Tanioka, Maki ; Okada, Hiroyuki ; Hirasawa, Akira
Publisher:Australia: John Wiley and Sons Inc
Journal title:DEN open, 2026-04, Vol.6 (1), p.e70104
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ArticlesPeer ReviewedFull Text
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Author / Creator:Watanabe, Kizuki ; Nishio, Shin-ya ; Usami, Shin-ichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-04, Vol.14 (1), p.8326-8326, Article 8326
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ArticlesPeer ReviewedFull Text
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants
Author / Creator:Okazaki, Tetsuya ; Matsuura, Kaori ; Kasagi, Noriko ; Adachi, Kaori ; Kai, Masachika ; Okubo, Mariko ; Nishino, Ichizo ; Nanba, Eiji ; Maegaki, Yoshihiro
Publisher:England
Journal title:Human genome variation, 2020-04, Vol.7 (1), p.12
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ArticlesPeer ReviewedFull Text
Serum Pepsinogens as a Marker of Delayed Gastric Emptying: 132
Author / Creator:Urita, Yoshihisa ; Ishihara, Susumu ; Domon, Kaoru ; Okazaki, Tetsuya ; Maeda, Tadashi ; Akimoto, Tatsuo ; Kato, Hirohito ; Hara, Noriko ; Honda, Yoshiko ; Nagai, Yoko ; Nakanishi, Kazushige ; Shimada, Nagato ; Sugimoto, Motonobu ; Miki, Kazumasa
Journal title:The American journal of gastroenterology, 2006-09, Vol.101, p.S87
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ArticlesPeer ReviewedFull Text
Change in Breath Hydrogen Concentration Reflects Movement of Intestinal Gas in Patients with Small-Bowel Pseudo-Obstruction: 291
Author / Creator:Urita, Yoshihisa ; Ishihara, Susumu ; Domon, Kaoru ; Yanagisawa, Taketo ; Okazaki, Tetsuya ; Maeda, Tadashi ; Akimoto, Tatsuo ; Kato, Hirohito ; Hara, Noriko ; Honda, Yoshiko ; Nagai, Yoko ; Nakanishi, Kazushige ; Shimada, Nagato ; Sugimoto, Motonobu ; Miki, Kazumasa
Journal title:The American journal of gastroenterology, 2006-09, Vol.101, p.S140-S141
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ArticlesPeer ReviewedFull Text
Diffuse White Spots of the Duodenum May Suggest Glucose Malabsorption: 290
Author / Creator:Urita, Yoshihisa ; Ishihara, Susumu ; Domon, Kaoru ; Okazaki, Tetsuya ; Maeda, Tadashi ; Miyamoto, Kazunari ; Ota, Hiroki ; Iwata, Motohide ; Ishii, Takamasa ; Asahina, Sakura ; Akimoto, Tatsuo ; Kato, Hirohito ; Hara, Noriko ; Honda, Yoshiko ; Nagai, Yoko ; Nakanishi, Kazushige ; Shimada, Nagato ; Sugimoto, Motonobu ; Miki, Kazumasa
Journal title:The American journal of gastroenterology, 2006-09, Vol.101, p.S140
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An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

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Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

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Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease

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Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study

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Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

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Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

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Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants

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Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series

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EFFECTS OF MILD AEROBIC EXERCISE AND A MILD HYPOCALORIC DIET ON PLASMA LEPTIN IN SEDENTARY WOMEN

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Adequacy evaluation of 22‐gauge needle endoscopic ultrasound‐guided tissue acquisition samples and glass slides preparation for successful comprehensive genomic profiling testing: A single institute e...

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The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

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Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants

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Serum Pepsinogens as a Marker of Delayed Gastric Emptying: 132

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Change in Breath Hydrogen Concentration Reflects Movement of Intestinal Gas in Patients with Small-Bowel Pseudo-Obstruction: 291

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Diffuse White Spots of the Duodenum May Suggest Glucose Malabsorption: 290

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