المؤلفون: Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817

المؤلفون: Yohane Miyata, Yonehiro Kanemura, Yuri Uchiyama, Fumihito Nozaki, Fumikatsu Nohara, Satomi Mitsuhashi, Satoshi Hada, Akihito Takeuchi, Fumihiko Ishida, Fumitaka Yoshioka, Hiroshi Terashima, Jiu Okuno-Yuguchi, Hirotomo Saitsu, Tadayuki Kumagai, Hidetoshi Taniguchi, Hiroshi Doi, Atsushi Takata, Atsuko Harada, Shinji Saitoh, Hitoshi Osaka, Eri Imagawa, Yusuke Mitani, Ayako Hattori, Yasuji Kitabatake, Koichi Tanda, Jun-ichi Takanashi, Atsushi Fujita, Hiroshi Arai, Ichiro Kuki, Makoto Kinoshita, Chikako Ogawa, Toshiyuki Itai, Yoshinori Tsurusaki, Yoshihiko Saito, Noriko Togashi, Noriko Miyake, Mazumi Miura, Hiroyuki Higashiyama, Masayasu Ohta, Yoshiichi Abe, Tetsuhiro Fukuyama, Yusuke Yachi, Tomoko Tandou, Etsuko Miyagi, Satoko Kumada, Shoko Shimokawa, Naomichi Matsumoto, Yuko Takei, Keiko Hirano, Satori Hirai, Keiichi Ozono, Yukihiro Kitai, Yuichi Takami, Mitsuo Motobayashi, Ryoko Honda, Masafumi Morimoto, Takaaki Nakano, Yuki Maki, Satoko Miyatake, Akihiko Ishiyama, Tatsuya Fukasawa, Mitsuhiro Kato, Yoshiteru Azuma, Robert Smigiel, Yushi Noguchi, Tsuyoshi Omi, Kohei Hamanaka, Naoki Ando, Masataka Taguri, Takeshi Mizuguchi, Chizuru Seiwa, Mitsuko Nakashima, Eriko Koshimizu, Shin Nabatame, Teruyuki Ishikura

المصدر: Journal of Medical Genetics. 58:505-513

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Obstetrics, business.industry, Gestational age, medicine.disease, Posterior fossa abnormalities, Porencephaly, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Obstetrics and gynaecology, Schizencephaly, Genetics, medicine, Gestation, business, 030217 neurology & neurosurgery, Genetics (clinical), Ventriculomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f2dd2760375d155949c433d65a592c68
https://doi.org/10.1136/jmedgenet-2020-106896

المؤلفون: Takanori Yamagata, Masaya Kubota, Jun-ichi Takanashi, Akiko Shibata, Kenjiro Kikuchi, Ichiro Kuki, Masayasu Ohta, Ai Hoshino, Gaku Yamanaka, Akira Kumakura, Sawako Yamazaki, Takashi Shiihara, Akira Oka, Masashi Mizuguchi, Hiroshi Matsumoto, Taku Miyagawa, Mariko Kasai, Shinya Hara

المصدر: Brain and Development. 41:862-869

مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Encephalopathy, Gastroenterology, Virus, Lesion, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Gene Frequency, Japan, Developmental Neuroscience, Risk Factors, Seizures, Internal medicine, medicine, Humans, Thermolabile, Alleles, Sanger sequencing, Brain Diseases, Polymorphism, Genetic, Carnitine O-Palmitoyltransferase, business.industry, Infant, General Medicine, medicine.disease, Minor allele frequency, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, symbols, Encephalitis, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ec4e2d3a0874943546b29c9dfb61e8
https://doi.org/10.1016/j.braindev.2019.07.008

المؤلفون: Toshiyuki, Itai, Satoko, Miyatake, Masataka, Taguri, Fumihito, Nozaki, Masayasu, Ohta, Hitoshi, Osaka, Masafumi, Morimoto, Tomoko, Tandou, Fumikatsu, Nohara, Yuichi, Takami, Fumitaka, Yoshioka, Shoko, Shimokawa, Jiu, Okuno-Yuguchi, Mitsuo, Motobayashi, Yuko, Takei, Tetsuhiro, Fukuyama, Satoko, Kumada, Yohane, Miyata, Chikako, Ogawa, Yuki, Maki, Noriko, Togashi, Teruyuki, Ishikura, Makoto, Kinoshita, Yusuke, Mitani, Yonehiro, Kanemura, Tsuyoshi, Omi, Naoki, Ando, Ayako, Hattori, Shinji, Saitoh, Yukihiro, Kitai, Satori, Hirai, Hiroshi, Arai, Fumihiko, Ishida, Hidetoshi, Taniguchi, Yasuji, Kitabatake, Keiichi, Ozono, Shin, Nabatame, Robert, Smigiel, Mitsuhiro, Kato, Koichi, Tanda, Yoshihiko, Saito, Akihiko, Ishiyama, Yushi, Noguchi, Mazumi, Miura, Takaaki, Nakano, Keiko, Hirano, Ryoko, Honda, Ichiro, Kuki, Jun-Ichi, Takanashi, Akihito, Takeuchi, Tatsuya, Fukasawa, Chizuru, Seiwa, Atsuko, Harada, Yusuke, Yachi, Hiroyuki, Higashiyama, Hiroshi, Terashima, Tadayuki, Kumagai, Satoshi, Hada, Yoshiichi, Abe, Etsuko, Miyagi, Yuri, Uchiyama, Atsushi, Fujita, Eri, Imagawa, Yoshiteru, Azuma, Kohei, Hamanaka, Eriko, Koshimizu, Satomi, Mitsuhashi, Takeshi, Mizuguchi, Atsushi, Takata, Noriko, Miyake, Yoshinori, Tsurusaki, Hiroshi, Doi, Mitsuko, Nakashima, Hirotomo, Saitsu, Naomichi, Matsumoto

المصدر: Journal of medical genetics. 58(8)

مصطلحات موضوعية: Collagen Type IV, Male, Pregnancy, Mutation, Humans, Female, Dandy-Walker Syndrome, Ultrasonography, Prenatal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fc6080ee5a40f45245e4fa378dce668e
https://pubmed.ncbi.nlm.nih.gov/32732225

المؤلفون: Charles Marques Lourenço, Satoko Miyatake, Lock-Hock Ngu, Mitsuhiro Kato, Y. Kumagai, Shuei Watanabe, Eli Heyman, Hirotomo Saitsu, Naomi Tsuchida, Tomohiro Chiyonobu, Naomichi Matsumoto, Akira Kumakura, Gaik-Siew Ch'ng, Hideaki Nakajima, Naama Orenstein, Atsushi Takata, Aviva Fattal-Valevski, Leah S. Cohen, Kazuhiro Haginoya, Masafumi Morimoto, Eri Imagawa, Hadassa Goldberg-Stern, M. Weisz Hubshman, Masaya Kubota, Takehiko Inui, Takeshi Mizuguchi, Mitsuko Nakashima, Daphna Marom, N.A. Yahaya, Shin-ichiro Hamano, Masayasu Ohta, Yuri Uchiyama, Noriko Miyake

المصدر: Clinical Genetics. 93:577-587

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Microarray, Biology, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Unknown Significance, Exome Sequencing, mental disorders, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Genetic Testing, Copy-number variation, Child, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Comparative Genomic Hybridization, Microarray analysis techniques, Computational Biology, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489c1618ffa2a786ff1df72687c44dd9
https://doi.org/10.1111/cge.13144

المؤلفون: Satomi Mitsuhashi, Kohei Hamanaka, Rie Miyata, Kazuki Tsukamoto, Tokito Yamaguchi, Satoko Miyatake, Taikan Oboshi, Toshiyuki Itai, Gaku Minase, Tomokazu Kimizu, Masayuki Shimono, Eriko Koshimizu, Takashi Shiihara, Kazuyuki Nakamura, Yasunari Sakai, Jun Tohyama, Masano Amamoto, Shinsaku Yoshitomi, Kazuhiro Iwama, Masayasu Ohta, Futoshi Sekiguchi, Rina Takahashi, Hirotomo Saitsu, Tohru Okanishi, Noriko Miyake, Shin Nabatame, Atsushi Takata, Masaya Kubota, Yohane Miyata, Rumiko Takayama, Naomi Tsuchida, Tomohiro Sakaguchi, Kouhei Den, Mizue Iai, Takeshi Mizuguchi, Tomohide Goto, Yukitoshi Takahashi, Shinichi Hirabayashi, Ken Saida, Yuri Uchiyama, Eri Imagawa, Hiroshi Matsumoto, Hirofumi Kashii, Katsumi Imai, Nobuhiko Okamoto, Kaori Aiba, Hitoshi Osaka, Mitsuhiro Kato, Hiromi Aoi, Saoko Takeshita, Yu Kobayashi, Ryutaro Kira, Naomichi Matsumoto, Ichiro Kuki, Mitsuko Nakashima, Munetsugu Hara, Kazuhiro Haginoya, Chihiro Ohba, Jun Matsui, Jun-ichi Takanashi, Atsushi Fujita, Kenji Yokochi, Masayuki Sasaki, Shimpei Baba, Hiroko Ikeda

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Genetics of the nervous system, General Physics and Astronomy, Epilepsies, Myoclonic, 02 engineering and technology, medicine.disease_cause, Japan, Polymorphism (computer science), Guanine Nucleotide Exchange Factors, DNA (Cytosine-5-)-Methyltransferases, lcsh:Science, Exome sequencing, Genetics, Principal Component Analysis, Mutation, Neurofibromin 1, Multidisciplinary, Disease genetics, 021001 nanoscience & nanotechnology, symbols, 0210 nano-technology, Spasms, Infantile, Science, TRPM Cation Channels, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, symbols.namesake, Asian People, Exome Sequencing, Genetic variation, medicine, Humans, Gene, Epilepsy, Lennox Gastaut Syndrome, Case-control study, Genetic Variation, Infant, General Chemistry, Genetic architecture, Adaptor Proteins, Vesicular Transport, Logistic Models, 030104 developmental biology, Case-Control Studies, Next-generation sequencing, Mendelian inheritance, lcsh:Q

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b583ee6b60c079588be46adcfa8fed34
https://doi.org/10.1038/s41467-019-10482-9

المؤلفون: Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta, Hitoshi Osaka, Masafumi Morimoto, Tomoko Tandou, Fumikatsu Nohara, Yuichi Takami, Fumitaka Yoshioka, Shoko Shimokawa, Jiu Okuno-Yuguchi, Mitsuo Motobayashi, Yuko Takei, Tetsuhiro Fukuyama, Satoko Kumada, Yohane Miyata, Chikako Ogawa, Yuki Maki

المصدر: Journal of Medical Genetics; Aug2021, Vol. 58 Issue 8, p505-513, 9p

المؤلفون: Kazuaki Matsumoto, Masayasu Ohta

المصدر: Journal of Genetic Disorders & Genetic Reports.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pediatrics, Heart disease, business.industry, Familial Mediterranean fever, medicine.disease, MEFV, chemistry.chemical_compound, Diarrhea, Epilepsy, chemistry, medicine, Vomiting, Colchicine, medicine.symptom, business, Wolf–Hirschhorn syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eaf3945cb5d71105338d5b3047f63454
https://doi.org/10.4172/2327-5790.1000133

المؤلفون: Masayasu Ohta, Norihisa Koyama, Mitushiro Kato, Kiyoshi Hayasaka, Kiyokuni Miura

المصدر: Epilepsia. 51:1679-1684

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hemimegalencephaly, Ohtahara syndrome, business.industry, Encephalopathy, Lissencephaly, West Syndrome, medicine.disease, Hydranencephaly, Surgery, Frameshift mutation, Neurology, medicine, Neurology (clinical), business, Lennox–Gastaut syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7991168ad08d8488e454a3600a54034
https://doi.org/10.1111/j.1528-1167.2010.02559.x

المؤلفون: Toshikazu Onishi, Masayasu Ohta, Kenichi Kashimada, Makoto Ono, Shuki Mizutani, Kentaro Miyai

المصدر: Endocrine Journal. 54:1015-1019

مصطلحات موضوعية: Male, Pituitary gland, medicine.medical_specialty, Adolescent, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Short stature, Endocrinology, Internal medicine, medicine, Humans, Gonadal Steroid Hormones, Growth Disorders, Human Growth Hormone, business.industry, Growth factor, Growth hormone secretion, medicine.anatomical_structure, Hypothalamus, Sex steroid, Prepubertal stage, medicine.symptom, business, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f96be2cdef3fa46a202be573ba2343
https://doi.org/10.1507/endocrj.k07-068