المؤلفون: Kouhei Den, Yosuke Kudo, Mitsuhiro Kato, Kosuke Watanabe, Hiroshi Doi, Fumiaki Tanaka, Hirokazu Oguni, Satoko Miyatake, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto

المصدر: BMC Neurology, Vol 19, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Whole-exome sequencing, NUS1, Epilepsy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-019-1489-x; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/34287c8170fb446fa293db36da0f8b22

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: Sakamoto, Masamune^{Aff1, Aff2}, Kouhei, Den, Haniffa, Muzhirah, Silva, Sebastián, Troncoso, Mónica, Santander, Paola, Schonstedt, Valeria, Stecher, Ximena^{Aff6, Aff7}, Okamoto, Nobuhiko, Hamanaka, Kohei, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Miyake, Noriko^Aff1, Matsumoto, Naomichi^Aff1

المصدر: Journal of Human Genetics. 65(9):751-757

المؤلفون: Takeshi Mizuguchi, Hiroshi Doi, Hirokazu Oguni, Kosuke Watanabe, Naomichi Matsumoto, Mitsuhiro Kato, Satomi Mitsuhashi, Yosuke Kudo, Fumiaki Tanaka, Noriko Miyake, Satoko Miyatake, Atsushi Takata, Kouhei Den

المصدر: BMC Neurology, Vol 19, Iss 1, Pp 1-7 (2019)
BMC Neurology

مصطلحات موضوعية: Male, Myoclonus, Ataxia, Nonsense-mediated decay, Case Report, Receptors, Cell Surface, lcsh:RC346-429, 03 medical and health sciences, Epilepsy, Exon, 0302 clinical medicine, Intellectual Disability, Medicine, Humans, Exome sequencing, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Genetics, 0303 health sciences, business.industry, General Medicine, medicine.disease, Pedigree, Scoliosis, Whole-exome sequencing, RNA splicing, Mutation, NUS1, Female, Neurology (clinical), RNA Splice Sites, medicine.symptom, business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbfbb06f6d5546422ff668013fb12bb
http://link.springer.com/article/10.1186/s12883-019-1489-x

المؤلفون: Tokito Yamaguchi, Satomi Mitsuhashi, Takeshi Mizuguchi, Satoko Miyatake, Kouhei Den, Mitsuhiro Kato, Noriko Miyake, Naomichi Matsumoto, Atsushi Takata

المصدر: Journal of Human Genetics. 64:821-827

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, Developmental Disabilities, DNA Mutational Analysis, 030105 genetics & heredity, Frameshift mutation, 03 medical and health sciences, Epilepsy, Exon, Gene Frequency, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Protein Interaction Domains and Motifs, Amino Acid Sequence, Allele, Frameshift Mutation, Allele frequency, Alleles, Genetic Association Studies, Genetics (clinical), business.industry, Exons, Histone-Lysine N-Methyltransferase, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Female, Chromosome Deletion, Abnormality, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ca4249a3a2e4fd0cdf928634b2bab6
https://doi.org/10.1038/s10038-019-0617-1

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: Sakamoto, Masamune, Kouhei, Den, Haniffa, Muzhirah, Silva, Sebastián, Troncoso, Mónica, Santander, Paola, Schonstedt, Valeria, Stecher, Ximena, Okamoto, Nobuhiko, Hamanaka, Kohei, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Miyake, Noriko, Matsumoto, Naomichi

المصدر: Journal of Human Genetics; September 2020, Vol. 65 Issue: 9 p751-757, 7p