A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing von Arai, Yuto, Okanishi, Tohru, Kanai, Sotaro, Okazaki, Tetsuya, Koshimizu, Eriko, Miyatake, Satoko, Maeoka, Yukinori, Fujimoto, Ayataka, Matsumoto, Naomichi, Maegaki, Yoshihiro

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First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing von Miyamoto, Yosuke, Okazaki, Tetsuya, Watanabe, Keisuke, Togawa, Masami, Adachi, Tadashi, Kato, Ayumi, Ochiai, Ryoya, Tamai, Chisato, Sone, Jun, Maegaki, Yoshihiro

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An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty von Arai, Yuto, Okanishi, Tohru, Okazaki, Tetsuya, Awano, Hiroyuki, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Tamasaki, Akiko, Maegaki, Yoshihiro

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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance von Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A., Wilke, Martina, Kasteleijn, Esmee, Lee, Arthur S., Barry, Brenda J., Chao, Katherine R., Szczałuba, Krzysztof, Kobori, Joyce, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Carr, Lucinda, D’Arco, Felice, Miyana, Kaori, Okazaki, Tetsuya, Saito, Yoshiaki, Sasaki, Masayuki, Das, Soma, Wheeler, Marsha M., Bamshad, Michael J., Nickerson, Deborah A., Engle, Elizabeth C., Verheijen, Frans W., Doherty, Dan, Mancini, Grazia M.S.

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Impaired neuronal integrity in traumatic brain injury detected by 123I-iomazenil single photon emission computed tomography and MRI von Kato, Hiroki, Nakagawara, Jyoji, Hachisuka, Kenji, Hatazawa, Jun, Ikoma, Katsunori, Suehiro, Eiichi, Iida, Hidehiko, Ogasawara, Kuniaki, Iizuka, Osamu, Ishiai, Sumio, Ichikawa, Tadashi, Nariai, Tadashi, Okazaki, Tetsuya, Shiga, Tohru, Mori, Etsuro

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Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion von Yamada, Hiroyuki, Okanishi, Tohru, Okazaki, Tetsuya, Oguri, Masayoshi, Fukuda, Hiromi, Uchiyama, Yuri, Mizuguchi, Takeshi, Matsumoto, Naomichi, Maegaki, Yoshihiro

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Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant von Tatsuya Kawaguchi, Tohru Okanishi, Tetsuya Okazaki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Yuichi Yoshida, Noriko Miyake, Naomichi Matsumoto, Yoshihiro Maegaki

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Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant von Okazaki, Tetsuya, Yamada, Hiroyuki, Matsuura, Kaori, Kasagi, Noriko, Miyake, Noriko, Matsumoto, Naomichi, Adachi, Kaori, Nanba, Eiji, Maegaki, Yoshihiro

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Clinical Characteristics of Fragile X Syndrome Patients in Japan von Okazaki, Tetsuya, Adachi, Kaori, Matsuura, Kaori, Oyama, Yoshitaka, Nose, Madoka, Shirahata, Emi, Abe, Toshiaki, Hasegawa, Takeshi, Maihara, Toshiro, Maegaki, Yoshihiro, Nanba, Eiji

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Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13 von Suzumori, Nobuhiro, Sekizawa, Akihiko, Takeda, Eri, Samura, Osamu, Sasaki, Aiko, Akaishi, Rina, Wada, Seiji, Hamanoue, Haruka, Hirahara, Fumiki, Sawai, Hideaki, Nakamura, Hiroaki, Yamada, Takahiro, Miura, Kiyonori, Masuzaki, Hideaki, Nakayama, Setsuko, Kamei, Yoshimasa, Namba, Akira, Murotsuki, Jun, Yamaguchi, Masayuki, Tairaku, Shinya, Maeda, Kazuhisa, Kaji, Takashi, Okamoto, Yoko, Endo, Masayuki, Ogawa, Masaki, Kasai, Yasuyo, Ichizuka, Kiyotake, Yamada, Naoki, Ida, Akinori, Miharu, Norio, Kawaguchi, Satoshi, Hasuo, Yasuyuki, Okazaki, Tetsuya, Ichikawa, Mayuko, Izumi, Shunichiro, Kuno, Naohiko, Yotsumoto, Junko, Nishiyama, Miyuki, Shirato, Nahoko, Hirose, Tatsuko, Sago, Haruhiko

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Epileptic phenotype of FGFR3 -related bilateral medial temporal lobe dysgenesis von Okazaki, Tetsuya, Saito, Yoshiaki, Ueda, Riyo, Awashima, Takeya, Nishimura, Yoko, Yuasa, Isao, Shinohara, Yuki, Adachi, Kaori, Sasaki, Masayuki, Nanba, Eiji, Maegaki, Yoshihiro

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Three Japanese patients with 3p13 microdeletions involving FOXP1 von Yamamoto-Shimojima, Keiko, Okamoto, Nobuhiko, Matsumura, Wataru, Okazaki, Tetsuya, Yamamoto, Toshiyuki

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Phase Lag Analysis Scalp Electroencephalography May Predict Seizure Frequencies in Patients with Childhood Epilepsy with Centrotemporal Spikes von Oguri, Masayoshi, Okazaki, Tetsuya, Okanishi, Tohru, Nishiyama, Masashi, Kanai, Sotaro, Yamada, Hiroyuki, Ogo, Kaoru, Himoto, Takashi, Maegaki, Yoshihiro, Fujimoto, Ayataka

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Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study von Futagawa, Mashu, Okazaki, Tetsuya, Nakata, Eiji, Fukano, Chika, Osumi, Risa, Kato, Fumino, Urakawa, Yusaku, Yamamoto, Hideki, Ozaki, Toshifumi, Hirasawa, Akira

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Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis von Kurata, Hirofumi, Shirai, Kentaro, Saito, Yoshiaki, Okazaki, Tetsuya, Ohno, Koyo, Oguri, Masayoshi, Adachi, Kaori, Nanba, Eiji, Maegaki, Yoshihiro

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Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion von Okazaki, Tetsuya, Kawaguchi, Tatsuya, Saiki, Yusuke, Aoki, Chisako, Kasagi, Noriko, Adachi, Kaori, Saida, Ken, Matsumoto, Naomichi, Nanba, Eiji, Maegaki, Yoshihiro

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Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders von Ebiki, Mitsutaka, Okazaki, Tetsuya, Kai, Masachika, Adachi, Kaori, Nanba, Eiji

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Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory von Sasaki, Yuna, Yamada, Takahiro, Tanaka, Shiro, Sekizawa, Akihiko, Hirose, Tatsuko, Suzumori, Nobuhiro, Kaji, Takashi, Kawaguchi, Satoshi, Hasuo, Yasuyuki, Nishizawa, Haruki, Matsubara, Keiichi, Hamanoue, Haruka, Fukushima, Akimune, Endo, Masayuki, Yamaguchi, Masayuki, Kamei, Yoshimasa, Sawai, Hideaki, Miura, Kiyonori, Ogawa, Masaki, Tairaku, Shinya, Nakamura, Hiroaki, Sanui, Ayako, Mizuuchi, Masahito, Okamoto, Yoko, Kitagawa, Michihiro, Kawano, Yukie, Masuyama, Hisashi, Murotsuki, Jun, Osada, Hisao, Kurashina, Ryuhei, Samura, Osamu, Ichikawa, Mayuko, Sasaki, Rumi, Maeda, Kazuhisa, Kasai, Yasuyo, Yamazaki, Tomomi, Neki, Reiko, Hamajima, Naoki, Katagiri, Yukiko, Izumi, Shunichiro, Nakayama, Setsuko, Miharu, Norio, Yokohama, Yuko, Hirose, Masaya, Kawakami, Kosuke, Ichizuka, Kiyotake, Sase, Masakatsu, Sugimoto, Kohei, Nagamatsu, Takeshi, Shiga, Tomomi, Tashima, Lena, Taketani, Takeshi, Matsumoto, Mariko, Hamada, Hironori, Watanabe, Takafumi, Okazaki, Tetsuya, Iwamoto, Sadahiko, Katsura, Daisuke, Ikenoue, Nobuo, Kakinuma, Toshiyuki, Hamada, Hiromi, Egawa, Makiko, Kasamatsu, Atsushi, Ida, Akinori, Kuno, Naohiko, Kuji, Naoaki, Ito, Mika, Morisaki, Hiroko, Tanigaki, Shinji, Hayakawa, Hiromi, Miki, Akinori, Sasaki, Shoko, Saito, Makoto, Yamada, Naoki, Sasagawa, Toshiyuki, Tanaka, Toshitaka, Hirahara, Fumiki, Kosugi, Shinji, Sago, Haruhiko

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Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing von Okazaki, Tetsuya, Murata, Megumi, Kai, Masachika, Adachi, Kaori, Nakagawa, Naoko, Kasagi, Noriko, Matsumura, Wataru, Maegaki, Yoshihiro, Nanba, Eiji

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Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation von Okazaki, Tetsuya, Saito, Yoshiaki, Sugita, Kazunari, Nosaka, Kanae, Ohno, Koyo, Hiraoka, Yumie, Kasagi, Noriko, Ebiki, Mitsutaka, Narai, Satoshi, Kawashima, Yuki, Takano, Shuichi, Kai, Masachika, Adachi, Kaori, Yamamoto, Osamu, Nanba, Eiji, Maegaki, Yoshihiro

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