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1دورية أكاديمية
المؤلفون: Taichiro Muto, Yuriko Kawase, Kaori Aiba, Miyuki Okuma, Naoya Itsumura, Shuangyu Luo, Namino Ogawa, Tokuji Tsuji, Taiho Kambe
المصدر: Pediatric Investigation, Vol 7, Iss 1, Pp 6-12 (2023)
مصطلحات موضوعية: Dermatology, Breastfeeding, Transient neonatal zinc deficiency (TNZD), Low‐zinc breast milk, SLC30A2/ZNT2, Promoter, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2574-2272
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2دورية أكاديمية
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
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3
المؤلفون: Shinichi Morishita, Yasuyo Suzuki, Jun Mitsui, Jun Yoshimura, Kenichiro Yamada, Kimiko Katoh, Nobuaki Wakamatsu, Kaori Aiba, Shoji Tuji, Daisuke Fukushi
المصدر: Human Mutation. 41:1447-1460
مصطلحات موضوعية: X-linked Nuclear Protein, congenital, hereditary, and neonatal diseases and abnormalities, Biology, X-inactivation, 03 medical and health sciences, Japan, X Chromosome Inactivation, Intellectual Disability, Female patient, Genetics, Humans, Gene, Genetics (clinical), X chromosome, 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, 030305 genetics & heredity, Breakpoint, Infant, FMR1, Peripheral blood, Chromatin, Child, Preschool, Cytogenetic Analysis, Female, Chromosome Deletion
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4
المؤلفون: Mari Sugimoto, Yasushi Okazaki, Shinji Saitoh, Akira Ohtake, Kei Murayama, Kaori Aiba, Yukiko Yatsuka, Yuji Nakamura, Kenji Yokochi
المصدر: European Journal of Medical Genetics. 64:104251
مصطلحات موضوعية: Male, X-linked Nuclear Protein, Mitochondrial disease, medicine.disease_cause, Chromatin remodeling, alpha-Thalassemia, Intellectual disability, Genetics, Humans, Medicine, Gene, Cells, Cultured, Genetics (clinical), ATRX, Mutation, Electron Transport Complex I, business.industry, General Medicine, Fibroblasts, medicine.disease, Phenotype, Mitochondrial respiratory chain, Child, Preschool, Mental Retardation, X-Linked, Cancer research, business
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5
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 Communicationsمصطلحات 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
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6
المؤلفون: Norihisa Koyama, Mari Sugimoto, Kaori Aiba, Hisahide Nishio, Kenji Yokochi
المصدر: Pediatrics international : official journal of the Japan Pediatric Society. 61(7)
مصطلحات موضوعية: Hybrid gene, Male, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Oligonucleotides, Magnetic resonance imaging, Spinal muscular atrophy, Walking, medicine.disease, Muscular Atrophy, Spinal, Neuromuscular Agents, Child, Preschool, Pediatrics, Perinatology and Child Health, medicine, Humans, Nusinersen, business
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7Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications
المؤلفون: Tokito Yamaguchi, Hideo Shigematsu, Yoshihiro Tanahashi, Akito Watanabe, Yukitoshi Takahashi, Shinsaku Yoshitomi, Mamiko Ishizuka, Toshiyuki Yamamoto, Hirosato Nasu, Yushi Inoue, Katsumi Imai, Hiroko Ikeda, Hideyuki Ohtani, Kaori Aiba, Shino Shimada, Hodaka Ohta, Yuki Ueda
المصدر: Brain and Development. 37:874-879
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Epilepsy, SCN3A, Developmental Neuroscience, Dravet syndrome, Gene Duplication, Febrile seizure, medicine, Humans, Generalized epilepsy, Genetics, business.industry, Infant, Newborn, Brain, Gene Abnormality, General Medicine, medicine.disease, Epileptic spasms, Chromosomes, Human, Pair 2, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), business, Spasms, Infantile
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8
المؤلفون: Kenichiro Yamada, Daisuke Fukushi, Kaori Aiba, Seiji Yamaguchi, Nobuaki Wakamatsu, Yasuyuki Kitaura, Yuji Nakamura, Kenji Yokochi, Kei Murayama, Noriko Nomura, Yusuke Kondo, Yoshiharu Shimomura, James Pitt
المصدر: Journal of Medical Genetics. 52:691-698
مصطلحات موضوعية: Male, Metabolite, Biology, Excretion, chemistry.chemical_compound, Japan, Valine, ECHS1, Genetics, Humans, Child, Enoyl-CoA Hydratase, Genetics (clinical), chemistry.chemical_classification, Catabolism, Acetylcysteine, Amino acid, Metabolic pathway, Biochemistry, chemistry, Child, Preschool, Mutation, Female, Acyl Coenzyme A, Metabolic Networks and Pathways, Metabolism, Inborn Errors, Cysteine
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9
المؤلفون: Mari, Sugimoto, Takao, Togawa, Kaori, Aiba, Norihisa, Koyama, Kenji, Yokochi, Kei, Murayama, Akira, Ohtake
المصدر: No to hattatsu = Brain and development. 49(1)
مصطلحات موضوعية: Male, Fatal Outcome, Mitochondrial Diseases, Biopsy, Child, Preschool, Humans, Muscle Hypotonia, Home Care Services, Respiration, Artificial
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7c251e8e4380d86b66c81235089bdb2d
https://pubmed.ncbi.nlm.nih.gov/30011153 -
10
المؤلفون: Kenichiro Yamada, Kimiko Katoh, Yasuyo Suzuki, Daisuke Fukushi, Kaori Aiba, Nobuaki Wakamatsu
المصدر: Journal of the Neurological Sciences. 381:194
مصطلحات موضوعية: Genetics, Neurology, Female patient, medicine, Hunter syndrome, Neurology (clinical), Biology, medicine.disease, Skewed X-inactivation, Phenotype