المؤلفون: Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-5 (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/c45cff0547904beb86b47c8556681b6d

المؤلفون: Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto

المصدر: Tokyo Women's Medical University Journal, Vol 4, Iss 0, Pp 85-89 (2020)

مصطلحات موضوعية: agyria, west syndrome, miller-dieker syndrome, Medicine

وصف الملف: electronic resource

Relation: https://www.jstage.jst.go.jp/article/twmuj/4/0/4_2020003/_pdf/-char/en; https://doaj.org/toc/2432-6186

URL الوصول: https://doaj.org/article/28b4aad2e88d4302ab0ca84325d82c11

المؤلفون: Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, Taichi Imaizumi, Toshiyuki Yamamoto, Takanori Yamagata

المصدر: Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)

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/4c1fb1e731384fcd93103de761cd91aa

المؤلفون: Atsuki Yamashita, Masashi Taki, Naoki Shimizu, Taichi Imaizumi, Tomoko Ashikaga

المصدر: Journal of St. Marianna University. 2022, 13(1):39

المؤلفون: Keiko Yamamoto, Kentarou Shirai, Miyuki Muramatsu, Taichi Imaizumi, Tomoe Yanagishita, Toshiyuki Yamamoto, 今泉 太一, 山本 俊至, 山本 圭子, 村松 みゆき, 柳下 友映, 白井 謙太朗

المصدر: 脳と発達 / NO TO HATTATSU. 2020, 52(1):41

المؤلفون: Keiko Yamamoto-Shimojima, Taichi Imaizumi, Toshiyuki Yamamoto

المصدر: Intractable & Rare Diseases Research. 2019, 8(3):198

المؤلفون: Akira Kumakura, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Yumko Ondo

المصدر: Intractable & Rare Diseases Research. 2018, 7(4):245

المؤلفون: Ako Machino, Chikako Masumori, Hitoshi Yamamoto, Taichi Imaizumi, Yukitoshi Takahashi, Yusaku Miyamoto, Yusuke Miyaji, 今泉 太一, 升森 智香子, 宮地 悠輔, 宮本 雄策, 山本 仁, 町野 亜古, 高橋 幸利

المصدر: 聖マリアンナ医科大学雑誌 / The St. Marianna Medical Journal. 2018, 46(2):63

المؤلفون: Hideaki Sato, Hideyuki Furuta, Hitoshi Yamamoto, Marie Nakano, Masashi Taki, Ryo Niiya, Shuji Hashimoto, Taichi Imaizumi, Tomoko Ashikaga, Tsuji Shiho, Yachio Kurihara, Yoshio Aida, 中野 茉莉恵, 今泉 太一, 佐藤 英章, 古田 繁行, 山本 仁, 新谷 亮, 栗原 八千代, 橋本 修二, 瀧 正志, 相田 芳夫, 足利 朋子, 辻 志穂

المصدر: 聖マリアンナ医科大学雑誌 / The St. Marianna Medical Journal. 2017, 45(1):49

المؤلفون: Toshiyuki Iwasaki, Toshihiro Kobayashi, Yusaku Miyamoto, Taichi Imaizumi, Shotaro Kaku, Noriko Udagawa, Hitoshi Yamamoto, Naoki Shimizu

المصدر: Journal of Clinical Medicine ; Volume 13 ; Issue 22 ; Pages: 6958

مصطلحات موضوعية: blood level, lacosamide, optimal range, reduction in epileptic seizure rate, therapeutic drug monitoring

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm13226958

الاتاحة: https://doi.org/10.3390/jcm13226958

المؤلفون: Takeaki Tamura, Keiko Shimojima Yamamoto, Taichi Imaizumi, Hisako Yamamoto, Yusaku Miyamoto, Hiroshi Yagasaki, Ichiro Morioka, Hitoshi Kanno, Toshiyuki Yamamoto

المصدر: American Journal of Medical Genetics Part A. 191:1632-1638

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3acd257260de2627986122d6d4ea3027
https://doi.org/10.1002/ajmg.a.63182

المؤلفون: Takahito Inoue, Hiroshi Ideguchi, Atsushi Ishii, Toshiyuki Yamamoto, Takako Fujita, Taichi Imaizumi, Shinichi Hirose, Yukiko Ihara, Hitomi Hayashi

المصدر: Congenital Anomalies. 60:189-193

مصطلحات موضوعية: Embryology, Pathology, medicine.medical_specialty, Micrognathism, Copy number analysis, Intellectual Disability, otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Macula Lutea, Child, Coffin–Siris syndrome, Genetic Association Studies, Sequence Deletion, Coarse facial features, business.industry, Exons, General Medicine, Phalanx, medicine.disease, Hypoplasia, Numerical digit, DNA-Binding Proteins, Phenotype, medicine.anatomical_structure, Dysplasia, Face, Pediatrics, Perinatology and Child Health, Nail (anatomy), Female, business, Hand Deformities, Congenital, Neck, Transcription Factors, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad09bf3ff084c3466a6f56af8de7182
https://doi.org/10.1111/cga.12383

المؤلفون: Tokito Yamaguchi, Keiko Yamamoto-Shimojima, Hirokazu Oguni, Ryutaro Kira, Ken Momosaki, Taichi Imaizumi, Akihiko Ishiyama, Pin Fee Chong, Shino Shimada, Hiroo Oomatsu, Katsumi Imai, Toshiyuki Seto, Hirokazu Kurahashi, Riyo Ueda, Eri Takeshita, Katsuhiro Kobayashi, Toshiyuki Yamamoto, Tomoe Yanagishita, Shiro Ozasa, Nobuhiko Okamoto, Tomoyuki Akiyama, Yongping Lu, Akihisa Okumura, Hikaru Kitahara

المصدر: Brain and Development. 41:776-782

مصطلحات موضوعية: Male, DNA Copy Number Variations, Genetic counseling, CDKL5, SYNGAP1, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Asian People, Japan, Developmental Neuroscience, Intellectual disability, medicine, Humans, Genetic Predisposition to Disease, Exome, X-linked recessive inheritance, business.industry, General Medicine, medicine.disease, Neurodevelopmental Disorders, CHD2, Autism spectrum disorder, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4a3906a3aaaf6e42457c5ff90bb305e
https://doi.org/10.1016/j.braindev.2019.05.007

المؤلفون: Tadashi Kaname, Ken Inoue, Keiko Yamamoto-Shimojima, Kohji Kato, Hideki Muramatsu, Toshiyuki Yamamoto, Taichi Imaizumi, Yusuke Okuno, Yusuke Aoki

المصدر: Journal of Human Genetics. 64:665-671

مصطلحات موضوعية: 0301 basic medicine, Pelizaeus-Merzbacher Disease, 030105 genetics & heredity, Biology, Decitabine, Asymptomatic, Piperazines, Cell Line, Frameshift mutation, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Spastic, Humans, Allele, Child, Frameshift Mutation, Myelin Proteolipid Protein, Gene, Alleles, Genetics (clinical), Exome sequencing, Paraplegia, Chromosomes, Human, X, RNA, Molecular biology, 030104 developmental biology, Cell culture, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ca26c20146dd23595a28e34dfd313d
https://doi.org/10.1038/s10038-019-0600-x

المؤلفون: Karin Kojima, Toshiyuki Yamamoto, Takanori Yamagata, Kei Wakabayashi, Taichi Imaizumi, Hitoshi Osaka

المصدر: Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)

مصطلحات موضوعية: Genetics, 0303 health sciences, lcsh:QH426-470, business.industry, 030302 biochemistry & molecular biology, lcsh:Life, Genetic predisposition to disease, Biochemistry, Pyramidal signs, Phenotype, Frameshift mutation, Paediatric neurological disorders, lcsh:Genetics, lcsh:QH501-531, 03 medical and health sciences, Data Report, Medicine, Missense mutation, business, Molecular Biology, Gene, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070e03da48c5014bcc1ca8c56e04aaca
https://pubmed.ncbi.nlm.nih.gov/33594047

المؤلفون: Tamami Yano, Nobuhiko Okamoto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto, Tomoe Yanagishita

المصدر: Human mutationREFERENCES. 41(12)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Gene Dosage, Computational biology, Biology, DNA sequencing, 03 medical and health sciences, symbols.namesake, Genetics, Humans, In patient, Digital polymerase chain reaction, Genetics (clinical), 030304 developmental biology, Sanger sequencing, Chromosome Aberrations, Gene Rearrangement, 0303 health sciences, Comparative Genomic Hybridization, Genome, Human, 030305 genetics & heredity, Breakpoint, Infant, Newborn, Infant, Chromosome Breakage, Nanopore Sequencing, Child, Preschool, symbols, Female, Nanopore sequencing, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49b56df9d7e793bddc3f3d4b2e9b35a
https://pubmed.ncbi.nlm.nih.gov/32906213

المؤلفون: Keiko Yamamoto-Shimojima, Hiroaki Ono, Toshiyuki Yamamoto, Taichi Imaizumi

المصدر: Human Genome Variation, Vol 7, Iss 1, Pp 1-3 (2020)
Human Genome Variation

مصطلحات موضوعية: Pathology, medicine.medical_specialty, lcsh:QH426-470, lcsh:Life, Compound heterozygosity, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Text mining, Genetics research, Data Report, Genetics, Medicine, Molecular Biology, Gene, 030304 developmental biology, Psychomotor learning, 0303 health sciences, biology, business.industry, Medical genetics, medicine.disease, lcsh:Genetics, lcsh:QH501-531, RNA splicing, Congenital muscular dystrophy, biology.protein, Creatine kinase, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a90de6c194e3d790ac8c41e3ec9741
https://doi.org/10.1038/s41439-020-0103-5

المؤلفون: Toshiyuki Yamamoto, Yumiko Ondo, Keiko Yamamoto-Shimojima, Nobuhiko Okamoto, Tomoe Yanagishita, Taichi Imaizumi, Eriko Nishi

المصدر: Human genetics. 139(12)

مصطلحات موضوعية: Down syndrome, Candidate gene, Chromosomes, Human, Pair 21, Gene Dosage, Muscle Proteins, Biology, Minor Histocompatibility Antigens, 03 medical and health sciences, Superoxide Dismutase-1, Genetics, medicine, Homologous chromosome, Chromosomes, Human, Humans, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, 030304 developmental biology, Chromosome Aberrations, 0303 health sciences, Comparative Genomic Hybridization, Whole Genome Sequencing, 030305 genetics & heredity, Breakpoint, Infant, medicine.disease, Microarray Analysis, DNA-Binding Proteins, Adaptor Proteins, Vesicular Transport, Palpebral fissure, Chromosomal region, Core Binding Factor Alpha 2 Subunit, Female, Down Syndrome, Chromosome 21, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506c7332138cb48e0f69cb5c1ba67a6a
https://pubmed.ncbi.nlm.nih.gov/32535809

المؤلفون: Satoshi Akamine, Pin Fee Chong, Ryutaro Kira, Toshiyuki Yamamoto, Taichi Imaizumi, Y Tomita

المصدر: Diagnostic and Interventional Imaging. 100:529-531

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cranial sclerosis, Radiological and Ultrasound Technology, business.industry, X ray computed, Medicine, Radiology, Nuclear Medicine and imaging, General Medicine, business, medicine.disease, Osteopathia striata, Frameshift mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fbcc4f74501771f69722a8a24506e039
https://doi.org/10.1016/j.diii.2019.04.001

المؤلفون: Toshiyuki Yamamoto, Tomoe Yanagishita, Keiko Yamamoto-Shimojima, Yumiko Ondo, Taichi Imaizumi

المصدر: Journal of human genetics. 65(9)

مصطلحات موضوعية: 0301 basic medicine, DNA End-Joining Repair, DNA Copy Number Variations, Copy number analysis, Computational biology, 030105 genetics & heredity, Biology, Translocation, Genetic, 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, DNA Breaks, Double-Stranded, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Oligonucleotide Array Sequence Analysis, Chromosome 7 (human), Chromosome Aberrations, Comparative Genomic Hybridization, Chromothripsis, medicine.diagnostic_test, Whole Genome Sequencing, Genome, Human, Sequence Inversion, Breakpoint, Chromosome, Chromosome Breakage, Genomics, DNA-Binding Proteins, Nanopore Sequencing, 030104 developmental biology, Neurodevelopmental Disorders, Chromosome Inversion, Female, Nanopore sequencing, Fluorescence in situ hybridization, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e79ce2487dfc64f5ea2729bcbdcb722
https://pubmed.ncbi.nlm.nih.gov/32355308