المؤلفون: Yamoto, Kaori, Yamada, Kosuke, Shimizu, Kenji, Miyamoto, Sachiko, Nakashima, Mitsuko, Saitsu, Hirotomo

المساهمون: Takeda Science Foundation, Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

المصدر: Molecular Genetics & Genomic Medicine ; volume 12, issue 12 ; ISSN 2324-9269 2324-9269

الاتاحة: https://doi.org/10.1002/mgg3.70037
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.70037

المؤلفون: 宮本, 祥子, Miyamoto, Sachiko

وصف الملف: application/pdf

URL الوصول: https://ndlsearch.ndl.go.jp/books/R100000039-I12489053

Degree: 博士(医学) -- 浜松医科大学

المؤلفون: Furukawa, Shogo, Miyamoto, Sachiko, Fukumura, Shinobu, Kubota, Kazuo, Taga, Toshiaki, Nakashima, Mitsuko, Saitsu, Hirotomo

المساهمون: Takeda Science Foundation, MEXT | Japan Society for the Promotion of Science, HUSM Grant-in-Aid from Hamamatsu University School of Medicine, Mochida Memorial Foundation for Medical and Pharmaceutical Research

المصدر: Human Genome Variation ; volume 9, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-022-00184-y
https://www.nature.com/articles/s41439-022-00184-y.pdf
https://www.nature.com/articles/s41439-022-00184-y

المؤلفون: Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo

المصدر: Child Neurology Open ; volume 8 ; ISSN 2329-048X 2329-048X

الاتاحة: https://doi.org/10.1177/2329048x211048613
https://journals.sagepub.com/doi/pdf/10.1177/2329048X211048613
https://journals.sagepub.com/doi/full-xml/10.1177/2329048X211048613

المؤلفون: Kashiki, Hitoshi, Li, Heng, Miyamoto, Sachiko, Ueno, Hiroe, Tsurusaki, Yoshinori, Ikeda, Chizuru, Kurata, Hirofumi, Okada, Takumi, Shimazu, Tomoyuki, Imamura, Hoseki, Enomoto, Yumi, Takanashi, Jun-ichi, Kurosawa, Kenji, Saitsu, Hirotomo, Inoue, Ken

المصدر: Neurology Genetics ; volume 6, issue 6 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000524
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000524

المؤلفون: Miyamoto, Sachiko, Nakashima, Mitsuko, Ohashi, Tsukasa, Hiraide, Takuya, Kurosawa, Kenji, Yamamoto, Toshiyuki, Takanashi, Junichi, Osaka, Hitoshi, Inoue, Ken, Miyazaki, Takehiro, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo

المساهمون: Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development, Ministry of Health, Labour and Welfare, Takeda Science Foundation

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 8 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.814
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.814
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.814
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.814
https://onlinelibrary.wiley.com/doi/am-pdf/10.1002%2Fmgg3.814

المؤلفون: Miyamoto, Sachiko, Nakamura, Kazuyuki, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo

المساهمون: Takeda Science Foundation, Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

المصدر: Annals of Human Genetics ; volume 87, issue 4, page 196-202 ; ISSN 0003-4800 1469-1809

الاتاحة: http://dx.doi.org/10.1111/ahg.12507
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12507

المؤلفون: Hiraide, Takuya, Shimizu, Kenji, Okumura, Yoshinori, Miyamoto, Sachiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo

المساهمون: MEXT | Japan Society for the Promotion of Science, Takeda Science Foundation, Japan Intractable Diseases (Nanbyo) Research Foundation, Japan Agency for Medical Research and Development

المصدر: Journal of Human Genetics ; volume 68, issue 7, page 499-505 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/s10038-023-01143-3
https://www.nature.com/articles/s10038-023-01143-3.pdf
https://www.nature.com/articles/s10038-023-01143-3

المؤلفون: Noguchi, Yutaro, Hinokuma, Nodoka, Tominaga, Makiko, Miyamoto, Sachiko, Nakashima, Mitsuko

المصدر: Pediatrics International ; volume 64, issue 1 ; ISSN 1328-8067 1442-200X

الاتاحة: http://dx.doi.org/10.1111/ped.14980
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14980
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/ped.14980

المؤلفون: Hiraide, Takuya, Akita, Tenpei, Uematsu, Kenji, Miyamoto, Sachiko, Nakashima, Mitsuko, Sasaki, Masayuki, Fukuda, Atsuo, Kato, Mitsuhiro, Saitsu, Hirotomo

المساهمون: MEXT | Japan Society for the Promotion of Science, Takeda Science Foundation

المصدر: Journal of Human Genetics ; volume 68, issue 1, page 25-31 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/s10038-022-01090-5
https://www.nature.com/articles/s10038-022-01090-5.pdf
https://www.nature.com/articles/s10038-022-01090-5

المؤلفون: Hiraide, Takuya, Shimizu, Kenji, Miyamoto, Sachiko, Aoto, Kazushi, Nakashima, Mitsuko, Yamaguchi, Tomomi, Kosho, Tomoki, Ogata, Tsutomu, Saitsu, Hirotomo

المساهمون: MEXT | Japan Society for the Promotion of Science, Takeda Science Foundation, Japan Intractable Diseases (Nanbyo) Research Foundation, Japan Agency for Medical Research and Development

المصدر: Journal of Human Genetics ; volume 67, issue 7, page 387-392 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/s10038-022-01016-1
https://www.nature.com/articles/s10038-022-01016-1.pdf
https://www.nature.com/articles/s10038-022-01016-1

المؤلفون: Miyamoto, Sachiko, Nakashima, Mitsuko, Fukumura, Shinobu, Kumada, Satoko, Saitsu, Hirotomo

المساهمون: Grants-in-Aid for Scientific Research, HUSM Grant-in-Aid from Hamamatsu University School of Medicine, Takeda Science Foundation

المصدر: neurogenetics ; volume 23, issue 2, page 129-135 ; ISSN 1364-6753

الاتاحة: http://dx.doi.org/10.1007/s10048-022-00686-5
https://link.springer.com/content/pdf/10.1007/s10048-022-00686-5.pdf
https://link.springer.com/article/10.1007/s10048-022-00686-5/fulltext.html

المؤلفون: Hiraide, Takuya, Shimizu, Kenji, Okumura, Yoshinori, Miyamoto, Sachiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo

المصدر: Journal of Human Genetics; July 2023, Vol. 68 Issue: 7 p499-505, 7p

المؤلفون: Miyamoto Sachiko, Kato Mitsuhiro, Hiraide Takuya, Shiohama Tadashi, Goto Tomohide, Hojo Akira, Ebata Akio, Suzuki Manabu, Kobayashi Kozue, Chong Pin Fee, Kira Ryutaro, Baber Matsushita Hiroko, Ikeda Hiroko, Hoshino Kyoko, Matsufuji Mayumi, Moriyama Nobuko, Furuyama Masayuki, Yamamoto Tatsuya, Nakashima Mitsuko, Saitsu Hirotomo

مصطلحات موضوعية: Corpus callosum anomaly, colpocephaly, copy number variants, somatic mosaicism, whole exome sequencing

وصف الملف: application/pdf

Relation: https://hama-med.repo.nii.ac.jp/?action=repository_uri&item_id=3790; http://hdl.handle.net/10271/00003914; Journal of Human Genetics, 66(11), 1061-1068(2021-11)

الاتاحة: http://hdl.handle.net/10271/00003914
https://hama-med.repo.nii.ac.jp/?action=repository_uri&item_id=3790

المؤلفون: Miyamoto, Sachiko, Kato, Mitsuhiro, Sugiyama, Kenji, Horiguchi, Ryo, Nakashima, Mitsuko, Aoto, Kazushi, Mutoh, Hiroki, Saitsu, Hirotomo

المساهمون: MEXT | Japan Society for the Promotion of Science, Takeda Science Foundation

المصدر: Journal of Human Genetics ; volume 66, issue 12, page 1189-1192 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/s10038-021-00953-7
https://www.nature.com/articles/s10038-021-00953-7.pdf
https://www.nature.com/articles/s10038-021-00953-7

المؤلفون: Negishi, Yutaka, Aoki, Yusuke, Itomi, Kazuya, Yasuda, Kazushi, Taniguchi, Hiroaki, Ishida, Atsushi, Arakawa, Takeshi, Miyamoto, Sachiko, Nakashima, Mitsuko, Saitsu, Hirotomo, Saitoh, Shinji

المصدر: Brain and Development ; volume 43, issue 7, page 804-808 ; ISSN 0387-7604

الاتاحة: http://dx.doi.org/10.1016/j.braindev.2021.03.004
https://api.elsevier.com/content/article/PII:S0387760421000619?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0387760421000619?httpAccept=text/plain

المؤلفون: Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo

مصطلحات موضوعية: FOS: Clinical medicine, 111403 Paediatrics, 110904 Neurology and Neuromuscular Diseases, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489b07e649962a2336c9784133644498

المؤلفون: Yamamoto, Akiyo, Fukumura, Shinobu, Habata, Yumi, Miyamoto, Sachiko, Nakashima, Mitsuko, Takashima, Shigeo, Kawasaki, Yukihiko, Shimozawa, Nobuyuki, Saitsu, Hirotomo

مصطلحات موضوعية: FOS: Clinical medicine, 111403 Paediatrics, 110904 Neurology and Neuromuscular Diseases, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c592b5a7eacfe74e8b266bd9093963

المؤلفون: Miyamoto, Sachiko, Kato, Mitsuhiro, Hiraide, Takuya, Shiohama, Tadashi, Goto, Tomohide, Hojo, Akira, Ebata, Akio, Suzuki, Manabu, Kobayashi, Kozue, Chong, Pin Fee, Kira, Ryutaro, Baber Matsushita, Hiroko, Ikeda, Hiroko, Hoshino, Kyoko, Matsufuji, Mayumi, Moriyama, Nobuko, Furuyama, Masayuki, Yamamoto, Tatsuya, Nakashima, Mitsuko, Saitsu, Hirotomo

مصطلحات الفهرس: Corpus callosum anomaly, colpocephaly, copy number variants, somatic mosaicism, whole exome sequencing, Journal Article, AM

URL: http://hdl.handle.net/10271/00003914
https://hama-med.repo.nii.ac.jp/?action=repository_action_common_download&item_id=3790&item_no=1&attribute_id=31&file_no=2
https://doi.org/10.1038/s10038-021-00932-y
33958710
https://doi.org/10.1038/s10038-021-00932-y

المؤلفون: Kawakami, Ryota, Hiraide, Takuya, Watanabe, Kazuki, Miyamoto, Sachiko, Hira, Kota, Komatsu, Kazuyuki, Ishigaki, Hidetoshi, Sakaguchi, Kimiyoshi, Maekawa, Masato, Yamashita, Keita, Fukuda, Tokiko, Miyairi, Isao, Ogata, Tsutomu, Saitsu, Hirotomo

المصدر: Journal of Human Genetics; 20230101, Issue: Preprints p1-9, 9p