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1دورية أكاديمية
المؤلفون: Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda
المصدر: Frontiers in Pediatrics, Vol 12 (2024)
مصطلحات موضوعية: TPRKB, Galloway-Mowat syndrome, exome sequencing, KEOPS complex, nephrotic proteinuria, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2024.1360867/fullTest; https://doaj.org/toc/2296-2360Test
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2دورية أكاديمية
المؤلفون: Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu
المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 476-481 (2019)
مصطلحات موضوعية: SETD1B, epilepsy with myoclonic absences, neurodevelopmental disorders, whole‐exome sequencing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2470-9239Test
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3دورية أكاديمية
المؤلفون: Takuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, Kumiko Yanagi, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
مصطلحات موضوعية: autism spectrum disorder, global developmental delay, TOP2B, whole‐exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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4دورية أكاديمية
المؤلفون: Shinji Itamura, Tohru Okanishi, Yoshifumi Arai, Mitsuyo Nishimura, Shimpei Baba, Naoki Ichikawa, Yoshimichi Hirayama, Naoko Ishihara, Takuya Hiraide, Hidetoshi Ishigaki, Tokiko Fukuda, Yoshiro Otsuki, Hideo Enoki, Ayataka Fujimoto
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: hemiconvulsion-hemiplegia-epilepsy syndrome, hemispherotomy, focal cortical dysplasia, cortical malformation, intractable epilepsy, epilepsy surgery, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.01233/fullTest; https://doaj.org/toc/1664-2295Test
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5دورية أكاديمية
المؤلفون: Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
مصطلحات موضوعية: congenital disorders of glycosylation, delayed myelination, SLC35A2, spastic paraplegia, splice site variant, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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6دورية أكاديمية
المؤلفون: Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Miki Asahina, Takuya Hiraide, Tokiko Fukuda, Tomoko Matsubayashi, 坂口 公祥, 平出 拓也, 朝比奈 美輝, 松林 朋子, 石垣 英俊, 福田 冬季子
المصدر: 脳と発達 / NO TO HATTATSU. 2015, 47(6):449
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7
المؤلفون: Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, TPRKB, Galloway-Mowat syndrome, exome sequencing, KEOPS complex, nephrotic proteinuria
الإتاحة: https://doi.org/10.3389/fped.2024.1360867.s001Test
https://figshare.com/articles/dataset/Table1_Case_Report_Novel_compound_heterozygous_TPRKB_variants_cause_Galloway-Mowat_syndrome_docx/25522495Test -
8
المؤلفون: Takuya Hiraide, Tenpei Akita, Kenji Uematsu, Sachiko Miyamoto, Mitsuko Nakashima, Masayuki Sasaki, Atsuo Fukuda, Mitsuhiro Kato, Hirotomo Saitsu
المصدر: Journal of Human Genetics. 68:25-31
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b115d541f5ed5c38f406998b7affcf1bTest
https://doi.org/10.1038/s10038-022-01090-5Test -
9
المؤلفون: Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
المصدر: Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1437a2cc663ff10fb1bcceb27d757fb2Test
https://doi.org/10.1038/s10038-023-01143-3Test -
10
المؤلفون: Akiyo Yamamoto, Hirotomo Saitsu, Kazushi Aoto, Shinobu Fukumura, Kousuke Tsuchida, Mitsuko Nakashima, Takuya Hiraide
المصدر: Brain and Development. 44:178-183
مصطلحات موضوعية: Sanger sequencing, business.industry, General Medicine, Bioinformatics, Hypotonia, White matter, symbols.namesake, medicine.anatomical_structure, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, symbols, Medicine, Missense mutation, Neurology (clinical), Global developmental delay, medicine.symptom, TMEM63A, business, Gene, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2d61814686053ce14820706fac23522fTest
https://doi.org/10.1016/j.braindev.2021.09.006Test