المؤلفون: Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/54b1c44fef794adbb0022bc6f593acb7

المؤلفون: Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/da340b3b30af42679f99a2df69ba8241

المؤلفون: Shizuka Harada, Yoshiteru Azuma, Yohei Misumi, Hirotaka Hayashi, Soichiro Matsubara, Keiichi Nakahara, Satoko Miyatake, Naomichi Matsumoto, Mitsuharu Ueda

المصدر: Internal Medicine. 2024, 63(18):2551-2553

المؤلفون: Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: Neurodevelopmental disorder, Intellectual disability, Epileptic encephalopathy, Autism spectrum disorder, Rare disease, De novo variant, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/212f0ca078af48c5b6f2a1dc43fa5a9d

المؤلفون: Ryosuke Miyamoto, Jun Sada, Koki Ota, Kenitiro Kaneko, Hironori Kusano, Yoshiteru Azuma, Akihisa Okumura

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-4 (2021)

مصطلحات موضوعية: Neonatal intrahepatic cholestasis caused by citrin deficiency, Fatty liver, Genetic analysis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/87889b2d56cd41b19260e7e499510484

المؤلفون: Motoya Kimura, Yoshiteru Azuma, Soutarou Taguchi, Mizuki Takagi, Hiromitsu Mori, Yasuto Shimomura, Jun-Ichi Niwa, Manabu Doyu, Akihisa Okumura

المصدر: Brain and Development. 44:343-346

مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ae0f2e520aa98e9e87bd1205911e0f7b
https://doi.org/10.1016/j.braindev.2022.01.003

المؤلفون: Yu Okai, Yoko Sakaguchi, Hiroyuki Kidokoro, Ayako Hattori, Hiroyuki Yamamoto, Atsuko Ohno, Yuji Ito, Naoko Ishihara, Masaharu Tanaka, Katsuhiko Kato, Tomoya Takeuchi, Tomohiko Nakata, Yoshiteru Azuma, Jun Natsume, Shin Nabatame

المصدر: Brain and Development. 43:69-77

مصطلحات موضوعية: Male, Deficiency syndrome, Adolescent, Monosaccharide Transport Proteins, Statistical parametric mapping, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Thalamus, Developmental Neuroscience, Fluorodeoxyglucose F18, Humans, Medicine, Child, Cerebral Cortex, Fluorodeoxyglucose, Glucose Transporter Type 1, medicine.diagnostic_test, business.industry, Brain, General Medicine, medicine.disease, Corpus Striatum, medicine.anatomical_structure, Cerebral cortex, Positron emission tomography, Child, Preschool, Positron-Emission Tomography, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), Radiopharmaceuticals, Differential diagnosis, business, Nuclear medicine, 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8443a09bc36e4751d49df6395b49a00
https://doi.org/10.1016/j.braindev.2020.07.001

المؤلفون: Masaki Miura, Akihiko Ishiyama, Hiromi Aoi, Akane Kondo, Fumiaki Tanaka, Hiroshi Handa, Yayoi Miyazono, Yuki Hyodo, Yukimi Oyoshi, Satoko Miyatake, Hitoshi Osaka, Naomichi Matsumoto, Kazuhiro Iwama, Lock-Hock Ngu, Tomohide Goto, Long Guo, Noriko Miyake, Naomi Tsuchida, Toshifumi Suzuki, Koichi Tanda, Eriko Koshimizu, Chong Ae Kim, Rachel Sayuri Honjo, Kohei Hamanaka, Tomohiro Sakaguchi, Muzhirah Haniffa, Sachiko Ohori, Yoko Hiraki, Hiromi Fukuda, Shin-ichiro Hamano, Mitsuhiro Kato, Ming Lei, Osamu Kawano, Atsushi Fujita, Ch'ng Gaik Siew, Takeshi Mizuguchi, Toshiyuki Itai, Futoshi Sekiguchi, Yuri Uchiyama, Tohru Okanishi, Takayoshi Koike, Débora Romeo Bertola, Eri Takeshita, Nobuhiko Okamoto, Kazuhiro Haginoya, Masahide Goto, Daisuke Yamaguchi, Hiroshi Matsumoto, Ken Saida, Nozomi Hiraishi, Manami Akasaka, Yoshihiro Maegaki, Shiro Ikegawa, Hiroshi Doi, Masamune Sakamoto, Tetsuya Okazaki, Yoshiyuki Ogawa, Atsushi Takata, Satoru Ikemoto, Yukitoshi Takahashi, Hiroyuki Yamada, Yoshiteru Azuma, Atsuro Daida, Keng Wee Teik

المصدر: Human Mutation. 42:50-65

مصطلحات موضوعية: Male, DNA Copy Number Variations, endocrine system diseases, Flow cell, Computational biology, Biology, Operational optimization, 03 medical and health sciences, Exome Sequencing, mental disorders, Genetics, Humans, Exome, Copy-number variation, Genetics (clinical), Selection (genetic algorithm), Likely pathogenic, Exome sequencing, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Female, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617d9aaba2fb565839d5eb7e0bed396e
https://doi.org/10.1002/humu.24129

المؤلفون: Kohei Hamanaka, Satoru Takeda, Jun Takeda, Atsushi Fujita, Atsuo Itakura, Takeshi Mizuguchi, Shiori Takeuchi, Hiromi Aoi, Noriko Miyake, Toshifumi Suzuki, Naomichi Matsumoto, Yoshiteru Azuma, Rie Seyama, Eriko Koshimizu, Yuri Uchiyama, Satoko Miyatake, Yuka Yamamoto, Atsushi Takata, Shintaro Makino, Satomi Mitsuhashi, Yojiro Maruyama

المصدر: Journal of Human Genetics. 66:499-507

مصطلحات موضوعية: 0301 basic medicine, Fetus, business.industry, 030105 genetics & heredity, Biology, medicine.disease, Bioinformatics, Phenotype, Genetic analysis, 03 medical and health sciences, genomic DNA, 030104 developmental biology, Genetics, medicine, Copy-number variation, Ultrasonography, Trisomy, business, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1c3c80d6cd26c7f161e66332c9d2f165
https://doi.org/10.1038/s10038-020-00869-8

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: Shin Nabatame, Junpei Tanigawa, Koji Tominaga, Kuriko Kagitani-Shimono, Keiko Yanagihara, Katsumi Imai, Toru Ando, Yu Tsuyusaki, Nami Araya, Mayumi Matsufuji, Jun Natsume, Kotaro Yuge, Drago Bratkovic, Hiroshi Arai, Takeshi Okinaga, Takeshi Matsushige, Yoshiteru Azuma, Naoko Ishihara, Satoko Miyatake, Mitsuhiro Kato, Naomichi Matsumoto, Nobuhiko Okamoto, Satoru Takahashi, Satoshi Hattori, Keiichi Ozono

المصدر: Journal of the Neurological Sciences. 447:120597

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f5b0ebbe3dbf9f9cfd0e90eebdae99e0
https://doi.org/10.1016/j.jns.2023.120597

المؤلفون: Sachiko Kitagawa, Kenjiro Wakabayashi, Yoshiteru Azuma, Hirokazu Kurahashi, Kei Takazawa, Kenichi Kashimada, Junko Takagi, Toshiyuki Yamamoto, Okumura Akihisa, Hideyuki Iwayama

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::366a8d5ceb6ea96dd2f8cb029883f0c0
https://doi.org/10.21203/rs.3.rs-1199527/v1

المؤلفون: Kumiko Yanagi, Yoshiteru Azuma, Atsushi Fujita, Yutaka Harita, Ai Motomura, Tadashi Kaname, Takeshi Mizuguchi, Yoichiro Oda, Naomichi Matsumoto, Keiko Wakui, Yoichi Matsubara, Kenichiro Hata, Hiroko Ogata, Yuri Uchiyama

المصدر: Journal of Human Genetics. 64:1005-1014

مصطلحات موضوعية: 0301 basic medicine, Adolescent, DNA Copy Number Variations, Chromosome Disorders, Chromosomal translocation, 030105 genetics & heredity, Biology, Translocation, Genetic, 03 medical and health sciences, Epilepsy, Gene Duplication, Chromosome Duplication, Exome Sequencing, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, Infant, West Syndrome, medicine.disease, Phenotype, Pedigree, Fibroblast Growth Factors, 030104 developmental biology, Neurodevelopmental Disorders, dup, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Chromosomes, Human, Pair 9, Spasms, Infantile, 3q29 microduplication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82255fe7684378b16d49ee12dd63a195
https://doi.org/10.1038/s10038-019-0641-1

المؤلفون: Rie, Seyama, Naomi, Tsuchida, Yasuyuki, Okada, Sonoko, Sakata, Keisuke, Hamada, Yoshiteru, Azuma, Kohei, Hamanaka, Atsushi, Fujita, Eriko, Koshimizu, Satoko, Miyatake, Takeshi, Mizuguchi, Shintaro, Makino, Atsuo, Itakura, Satoshi, Okada, Nobuhiko, Okamoto, Kazuhiro, Ogata, Yuri, Uchiyama, Naomichi, Matsumoto

المصدر: Journal of human genetics. 67(3)

مصطلحات موضوعية: Craniofacial Abnormalities, Intellectual Disability, Exome Sequencing, Humans, Dioxygenases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2dc7bdda624838b8ae9f988e1a344df9
https://pubmed.ncbi.nlm.nih.gov/34719681

المؤلفون: Yoshiteru Azuma, Kenitiro Kaneko, Koki Ota, Ryosuke Miyamoto, Hironori Kusano, Akihisa Okumura, Jun Sada

المصدر: BMC Pediatrics
BMC Pediatrics, Vol 21, Iss 1, Pp 1-4 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Organic Anion Transporters, Case Report, Gastroenterology, Pediatrics, Mitochondrial Membrane Transport Proteins, RJ1-570, Cholangiography, Cholestasis, Biliary atresia, Internal medicine, medicine, Humans, Neonatal cholestasis, Citrullinemia, medicine.diagnostic_test, business.industry, Fatty liver, Calcium-Binding Proteins, Genetic analysis, Infant, Newborn, Infant, Jaundice, medicine.disease, Fatty Liver, Neonatal intrahepatic cholestasis caused by citrin deficiency, Pediatrics, Perinatology and Child Health, Mutation, Female, medicine.symptom, Steatosis, Steatohepatitis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ad5e519aee74ee7e1fc4106294c60f
https://pubmed.ncbi.nlm.nih.gov/34006251

المؤلفون: Mitsuhiro Kato, Yoshiteru Azuma, Takeshi Mizuguchi, Yoshitaka Hiromoto, Noriko Miyake, Atsushi Takata, Satomi Mitsuhashi, Yuichi Suzuki, Megumi Hoshina, Satoko Miyatake, Yuri Uchiyama, Naomichi Matsumoto

المصدر: Human Genome Variation

مصطلحات موضوعية: Refractory seizures, Pathology, medicine.medical_specialty, business.industry, Periventricular Nodular Heterotopia, West Syndrome, Cryptogenic West syndrome, Biochemistry, Data Report, Genetics, FLNA, Medicine, Missense mutation, In patient, business, Molecular Biology, Psychomotor delay, Neurological disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31bc78010fcac497b575fb65caedd686
http://europepmc.org/articles/PMC7713383

المؤلفون: Hiromi, Aoi, Takeshi, Mizuguchi, Toshifumi, Suzuki, Shintaro, Makino, Yuka, Yamamoto, Jun, Takeda, Yojiro, Maruyama, Rie, Seyama, Shiori, Takeuchi, Yuri, Uchiyama, Yoshiteru, Azuma, Kohei, Hamanaka, Atsushi, Fujita, Eriko, Koshimizu, Satoko, Miyatake, Satomi, Mitsuhashi, Atsushi, Takata, Noriko, Miyake, Satoru, Takeda, Atsuo, Itakura, Naomichi, Matsumoto

المصدر: Journal of human genetics. 66(5)

مصطلحات موضوعية: Adult, DNA Copy Number Variations, Cesarean Section, Pregnancy Outcome, Gestational Age, DNA, Fetal Blood, Polymorphism, Single Nucleotide, Ultrasonography, Prenatal, Congenital Abnormalities, Fetus, Pregnancy, Exome Sequencing, Leukocytes, Humans, Female, Down Syndrome, Fetal Death, Abortion, Eugenic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fc96219253a35fe90078c04e608cee32
https://pubmed.ncbi.nlm.nih.gov/33144663

المؤلفون: Hisashi Kawai, Chikako Ogawa, Akihiro Hirakawa, Tetsuo Kubota, Naoko Ishihara, Atsuko Ohno, Tatsuya Fukasawa, Yuji Ito, Yoshiteru Azuma, Jun Natsume, Yoko Sakaguchi, Tomohiko Nakata, Takeshi Tsuji, Hiroyuki Yamamoto, Ayako Hattori, Hiroyuki Kidokoro, Yu Okai

المصدر: Epilepsia. 59:440-448

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Developmental Disabilities, Brain Edema, Corpus callosum, 030218 nuclear medicine & medical imaging, White matter, 03 medical and health sciences, 0302 clinical medicine, Fractional anisotropy, Humans, Medicine, Longitudinal Studies, Prospective Studies, Prospective cohort study, business.industry, Brain, Infant, White Matter, Frontal Lobe, Diffusion Tensor Imaging, medicine.anatomical_structure, Neurology, Case-Control Studies, Child, Preschool, Etiology, Anisotropy, Female, Neurology (clinical), Brainstem, business, Spasms, Infantile, 030217 neurology & neurosurgery, Brain Stem, Diffusion MRI, Tractography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::896b3ea9c082cb00e816e2985254f7e6
https://doi.org/10.1111/epi.13988

المؤلفون: Hideyuki Iwayama, Akihisa Okumura, Yoshiteru Azuma, Shingo Numoto, Mizuki Takagi, Hirokazu Kurahashi

المصدر: Epilepsy & Behavior. 122:108220

مصطلحات موضوعية: medicine.medical_specialty, Ammonia levels, Behavioral Neuroscience, Epilepsy, Carnitine, Internal medicine, medicine, Humans, Platelet, In patient, Amylase, Child, Retrospective Studies, biology, business.industry, Valproic Acid, medicine.disease, Childhood onset epilepsy, Endocrinology, Neurology, Dietary Supplements, biology.protein, Neurology (clinical), Pancreatic injury, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9bcd022b1dac8eab46436eae97f8e8
https://doi.org/10.1016/j.yebeh.2021.108220

المؤلفون: Akihisa Okumura, Hirokazu Kurahashi, Michihiko Takasu, Nozomi Nago, Takahisa Tainaka, Yoshiteru Azuma, Atsushi Numaguchi, Kozaburo Nakahara, Shingo Numoto, Yoshiro Kitagawa, Taichiro Muto, Kiyoshi Yamakawa

المصدر: Brain and Development. 39:435-438

مصطلحات موضوعية: Male, medicine.medical_specialty, Adrenocorticotropic hormone, law.invention, 03 medical and health sciences, 0302 clinical medicine, Adrenocorticotropic Hormone, Developmental Neuroscience, law, 030225 pediatrics, Intensive care, Scrotum, medicine, Humans, Fasciitis, Disseminated intravascular coagulation, Gangrene, Septic shock, business.industry, Infant, Newborn, General Medicine, medicine.disease, Intensive care unit, Hormones, Surgery, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Anesthesia, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Spasms, Infantile, Fournier Gangrene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7f9a0a587f498ed68597931b12b4ab
https://doi.org/10.1016/j.braindev.2016.11.012