المؤلفون: Takashi X Fujisawa, Chiho Yatsuga, Hiroyo Mabe, Eiji Yamada, Masato Masuda, Akemi Tomoda

المصدر: PLoS ONE, Vol 10, Iss 6, p e0128548 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4465897?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6af3cf6076ea4970b4d73d8a9bbb031b

المؤلفون: Miwa Nakamura, Takashi Ohba, Rumi Sasaki, Fumitaka Saito, Munekage Yamaguchi, Takeshi Motohara, Hiroyo Mabe, Xi Lu, Hidetaka Katabuchi, Eiji Kondoh

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba6cc583be8498bd2c1e15bc5db74778
https://doi.org/10.21203/rs.3.rs-2916005/v1

المؤلفون: An Murai, Naoki Shinojima, Genki Ikuta, Kazutaka Ozono, Yutaka Ueda, Hiroyo Mabe, Kenji Nakamura, Naoko Iwata, Haruki Fujisawa, Fusa Nagamatsu, Nagisa Komatsu, Ken Uekawa, Shigeyuki Nishikawa, Kimitoshi Nakamura, Yoshiki Mikami, Atsushi Suzuki, Yoshihisa Sugimura, Akitake Mukasa

المصدر: Endocrine Journal.

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d797129564d8946e992fd14223118957
https://doi.org/10.1507/endocrj.ej22-0637

المؤلفون: Taichi Kitaoka, Hiroyo Mabe, Katsusuke Yamamoto, Rieko Kosugi, Chieko Yamada, Toshimi Michigami, Takeshi Yamaguchi, Keiichi Ozono, Takuo Kubota, Akiko Yamamoto, Noriyuki Namba, Yukako Nakano, Shinji Takeyari, Azusa Kawaguchi, Makoto Fujiwara, Katsuyuki Matsui, Yasuki Ishihara, Junya Etoh, Izumi Tamada, Yasuhisa Ohata, Kenichi Yamamoto

المصدر: Bone. 153:116135

مصطلحات موضوعية: Fibroblast growth factor 23, Histology, Genotype, Physiology, Endocrinology, Diabetes and Metabolism, Mutant, Rickets, Biology, Short stature, Gene dosage, Japan, medicine, Humans, Retrospective Studies, Genetics, Binding Sites, PHEX, Genetic Diseases, X-Linked, medicine.disease, PHEX Phosphate Regulating Neutral Endopeptidase, Fibroblast Growth Factors, Fibroblast Growth Factor-23, Zinc, Hypophosphatemic Rickets, Phenotype, Mutation, Familial Hypophosphatemic Rickets, medicine.symptom, Hypophosphatemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a50eaa1ccc80e2d35f3c805118719a
https://doi.org/10.1016/j.bone.2021.116135

المؤلفون: Takashi Hamajima, Maki Fukami, Yasuhiro Naiki, Hirohito Shima, Susumu Kanzaki, Masanori Adachi, Tomohiro Ishii, Junko Kanno, Toshiaki Tanaka, Shigeo Kure, Toshihiro Tajima, Hiroyo Mabe, Hideaki Yagasaki, Yumi Asakura, Keisuke Nagasaki, Tomoko Jinno, Kenichi Kashimada, Tsutomu Ogata, Ikuma Fujiwara, Sumito Dateki, Hiroyuki Tanaka, Yoichi Matsubara, Shun Soneda, Tsutomu Kamimaki, Koji Muroya, Reiko Horikawa

المصدر: Journal of Human Genetics. 61:585-591

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Dwarfism, 030105 genetics & heredity, Biology, Osteochondrodysplasias, Bioinformatics, Cohort Studies, Genetic Heterogeneity, 03 medical and health sciences, Japan, Short Stature Homeobox Protein, Molecular genetics, Genetics, medicine, Humans, Child, Léri–Weill dyschondrosteosis, Genetic Association Studies, Growth Disorders, Genetics (clinical), Homeodomain Proteins, Genetic heterogeneity, Point mutation, Genetic Variation, Infant, Sequence Analysis, DNA, Syndrome, medicine.disease, Idiopathic short stature, Phenotype, 030104 developmental biology, Statistical genetics, Child, Preschool, Mutation, Medical genetics, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c92f0238c90d701110feab45e036821
https://doi.org/10.1038/jhg.2016.18

المؤلفون: Mayumi Enya, Kenichi Hashimoto, Masaaki Ohashi, Kei Fukushima, Noriyuki Takubo, Yukio Horikawa, Hirotaka Watada, Fuki Ikeda, Jun Takeda, Hiroyo Mabe

المصدر: Pediatric diabetes. 19(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, DNA Mutational Analysis, Mutation, Missense, 030209 endocrinology & metabolism, Penetrance, Disease, medicine.disease_cause, Frameshift mutation, Diabetic Ketoacidosis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Frequency, Japan, Diabetes mellitus, Internal medicine, Insulin-Secreting Cells, Insulin Secretion, Internal Medicine, medicine, Basic Helix-Loop-Helix Transcription Factors, Missense mutation, Humans, Insulin, Family history, Frameshift Mutation, Alleles, Mutation, business.industry, Exons, medicine.disease, Pedigree, 030104 developmental biology, Endocrinology, Amino Acid Substitution, Diabetes Mellitus, Type 2, Hyperglycemia, Pediatrics, Perinatology and Child Health, NEUROD1, Female, Nervous System Diseases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa725e57ae845ddd4ac2563f25626f76
https://pubmed.ncbi.nlm.nih.gov/28664602

المؤلفون: Noriko Miyake, S. Ozasa, Takeshi Mizuguchi, Eri Imagawa, Masaaki Shiina, Mitsuko Nakashima, Naomichi Matsumoto, S. Kimura, Kazuhiro Ogata, Hiroyo Mabe, Atsushi Takata, Satoko Miyatake

المصدر: Clinical Genetics. 93:929-930

مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, Genetics, business.industry, Nonsense mutation, Phenotype, Amino acid, 03 medical and health sciences, 030104 developmental biology, chemistry, Mutation (genetic algorithm), Medicine, Missense mutation, business, Exome, Peptide sequence, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f206876c0d77b5228bcd96ef49a33a99
https://doi.org/10.1111/cge.13105

المؤلفون: Hidefumi Tonoki, Mitsuhiro Kato, Atsushi Ogawa, Jun-ichi Takanashi, Toshiro Nagai, Takashi Enokizono, Nobuhiko Okamoto, Sachiko Kitanaka, Naoko Ito, Eriko Koshimizu, Mustafa Tekin, Naomichi Matsumoto, Takako Fujita, Kayoko Saito, Nobuhiko Ochi, Toshio Makita, Astushi Sato, Ko Ichiro Yoshiura, Hiroyuki Tanaka, Masataka Taguri, Makoto Yoshino, Yoko Hiraki, Yoichi Matsubara, Hirotomo Saitsu, Tomoki Kosho, Mari Urano, Seiji Mizuno, Norio Niikawa, Kenji Ihara, Hirofumi Ohashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Yoriko Watanabe, Mari Matsuo, Toshiro Hara, Hiroyo Mabe, Toyojiro Matsuishi, Vorasuk Shotelersuk, Masaya Kubota, Goro Sasaki, Tsutomu Ogata, Tohru Ohta

المصدر: American Journal of Medical Genetics Part A. 161:2234-2243

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mutation rate, Adolescent, Biology, medicine.disease_cause, Short stature, Young Adult, Mutation Rate, X Chromosome Inactivation, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, Histone Demethylases, Mutation, Infant, Newborn, Facies, High-Throughput Nucleotide Sequencing, Infant, Nuclear Proteins, medicine.disease, Hematologic Diseases, Dermatology, Hypotonia, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Amino Acid Substitution, Vestibular Diseases, Child, Preschool, Face, Female, medicine.symptom, Kabuki syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fdfae67e07ceeaa93f366f5dcc651bd
https://doi.org/10.1002/ajmg.a.36072

المؤلفون: Akemi Tomoda, Yuki Korenaga, Hiroyo Mabe, Sumihito Kinoshita

المصدر: Cortex. 48:492-503

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Cognitive Neuroscience, Middle temporal gyrus, Emotions, Experimental and Cognitive Psychology, Brodmann area 10, Neuropsychological Tests, Audiology, behavioral disciplines and activities, Temporal lobe, Superior temporal gyrus, Cognition, Evoked Potentials, Auditory, Brain Stem, Image Processing, Computer-Assisted, medicine, Cluster Analysis, Humans, Attention, Child, Somatoform Disorders, Hearing Disorders, Intelligence Tests, Psychiatric Status Rating Scales, Depression, Brain morphometry, 377.5, Medial frontal gyrus (Brodmann area 10), Superior temporal gyrus (Brodmann area 42), Voxel-based morphometry, Medial frontal gyrus, Magnetic Resonance Imaging, Temporal Lobe, Somatoform disorder, Frontal Lobe, Aggression, Neuropsychology and Physiological Psychology, medicine.anatomical_structure, Acoustic Stimulation, Socioeconomic Factors, Frontal lobe, Audiometry, Pure-Tone, Female, Pseudohypacusis, Psychology, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::883988e0042d1bb1ff978987e2adc32a
https://doi.org/10.1016/j.cortex.2010.10.001

المؤلفون: Toju Tanaka, Isaku Omori, Kiyoshi Kikuchi, Masaru Miura, Hiroshi Kawame, Erika Okano, Kenji Ihara, Johji Inazawa, Toshihiro Ohura, Yoichi Matsubara, Hiroyo Mabe, Akira Ohtake, Shin Nabatame, Kenji Kurosawa, Hironao Numabe, Kyoko Watanabe, Seiji Mizuno, Tetsuya Niihori, Hirofumi Ohashi, Yoko Aoki, Yoshikazu Kuroki, Shinichi Niijima, Nobuhiko Okamoto, Hiroshi Arai

المصدر: Journal of Human Genetics. 56:707-715

مصطلحات موضوعية: Adult, Male, Senescence, Adolescent, Genotype, DNA Mutational Analysis, Mutant, Biology, medicine.disease_cause, Cell Line, Proto-Oncogene Proteins p21(ras), Mice, Germline mutation, Costello syndrome, Genetics, medicine, Animals, Humans, HRAS, Child, Codon, Cellular Senescence, Genetics (clinical), Mutation, Costello Syndrome, Infant, Fibroblasts, medicine.disease, Phenotype, Up-Regulation, Child, Preschool, NIH 3T3 Cells, Cancer research, Female, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9fc9aeb1143f53a79764a5fe3ebaf13
https://doi.org/10.1038/jhg.2011.85