المؤلفون: Akane Hirose, Hiroshi Yoshimura, Kenichiro Ogushi, Marie Nakano, Miki Moriuchi, Mitsuru Shirato, Naoki Shimizu, 中野 茉莉恵, 吉村 博, 大串 健一郎, 廣瀬 あかね, 森内 美希, 清水 直樹, 白土 允

المصدر: 聖マリアンナ医科大学雑誌 / The St. Marianna Medical Journal. 2023, 51(2):57

المؤلفون: Akihiro Igarashi, Hitoshi Ikeda, Junko Fujino, Kenichiro Ogushi, Kenta Kikuchi, Mariko Hasegawa, Masahiro Hatanaka, Yoko Kishi, 五十嵐 昭宏, 大串 健二郎, 岸 陽子, 池田 均, 畑中 政博, 菊地 健太, 藤野 順子, 長谷川 真理子

المصدر: 日本小児外科学会雑誌 / Journal of the Japanese Society of Pediatric Surgeons. 2018, 54(2):236

المؤلفون: Atsushi Hattori, Masako Izawa, Hitoshi Yamamoto, Hirohito Shima, Kenichiro Ogushi, Shun Soneda, Akihiro Umezawa, Reiko Horikawa, Hideaki Yagasaki, Erina Suzuki, Tomohiro Ishii, Noriyuki Namba, Mami Miyado, Toshiaki Tanaka, Koji Muroya, Yasuhiro Hirano, Keiko Matsubara, Masayo Kagami, Kimiaki Uetake, Maki Fukami

المصدر: Cytogenetic and Genome Research. 158:56-62

مصطلحات موضوعية: Genetics, 0303 health sciences, 030305 genetics & heredity, Pseudoautosomal region, Bisulfite sequencing, Biology, medicine.disease, X-inactivation, 03 medical and health sciences, CpG site, DNA methylation, medicine, Copy-number variation, Haploinsufficiency, Molecular Biology, Léri–Weill dyschondrosteosis, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ea0308d5a7b1aeb5bd896adf497ed33f
https://doi.org/10.1159/000500468

المؤلفون: Hirohito Shima, Kenichiro Ogushi, Koji Muroya, Mami Miyado, Tomoko Jinno, Maki Fukami

المصدر: American journal of medical genetics. Part A. 179(9)

مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, DNA Copy Number Variations, Genotype, Single-nucleotide polymorphism, Dwarfism, Haploinsufficiency, 030105 genetics & heredity, Biology, Osteochondrodysplasias, Polymorphism, Single Nucleotide, Chromosome conformation capture, 03 medical and health sciences, Gene Frequency, Short Stature Homeobox Protein, Genetics, medicine, Humans, Gene Regulatory Networks, Copy-number variation, Indel, Child, Léri–Weill dyschondrosteosis, Genetics (clinical), Growth Disorders, Siblings, medicine.disease, Idiopathic short stature, Pedigree, Minor allele frequency, 030104 developmental biology, Gene Expression Regulation, Haplotypes, Child, Preschool, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f78a201ad5714ba4ca409d2de97f49f
https://pubmed.ncbi.nlm.nih.gov/31228230

المؤلفون: Kenichiro, Ogushi, Atsushi, Hattori, Erina, Suzuki, Hirohito, Shima, Masako, Izawa, Hideaki, Yagasaki, Reiko, Horikawa, Kimiaki, Uetake, Akihiro, Umezawa, Tomohiro, Ishii, Koji, Muroya, Noriyuki, Namba, Toshiaki, Tanaka, Yasuhiro, Hirano, Hitoshi, Yamamoto, Shun, Soneda, Keiko, Matsubara, Masayo, Kagami, Mami, Miyado, Maki, Fukami

المصدر: Cytogenetic and genome research. 158(2)

مصطلحات موضوعية: Adult, Adolescent, DNA Copy Number Variations, Genetic Diseases, X-Linked, Sequence Analysis, DNA, DNA Methylation, Osteochondrodysplasias, Chondrocytes, Short Stature Homeobox Protein, Case-Control Studies, Child, Preschool, Humans, CpG Islands, Female, Child, Cells, Cultured, Growth Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e30653c4790236055cdce65cb862b006
https://pubmed.ncbi.nlm.nih.gov/31158835

المؤلفون: Kenichiro Ogushi, Atsushi Hattori, Erina Suzuki, Hirohito Shima, Masako Izawa, Hideaki Yagasaki, Reiko Horikawa, Kimiaki Uetake, Akihiro Umezawa, Tomohiro Ishii, Koji Muroya, Noriyuki Namba, Toshiaki Tanaka, Yasuhiro Hirano, Hitoshi Yamamoto, Shun Soneda, Keiko Matsubara, Masayo Kagami, Mami Miyado, Maki Fukami

المصدر: Cytogenetic & Genome Research; 2019, Vol. 158 Issue 2, p56-62, 7p, 4 Diagrams, 1 Chart

مصطلحات موضوعية: SHORT stature, DNA methylation, X chromosome, SEX chromosomes, CHROMOSOMAL rearrangement, BLOOD cells