المؤلفون: Keiko Shimojima-Yamamoto, Miyuki Muramatsu, Nobuhiko Okamoto, Pin Fee Chong, Ryutaro Kira, Toshiyuki Yamamoto, チョン ピンフィー, 下島（山本） 圭子, 吉良 龍太郎, 山本 俊至, 岡本 伸彦, 村松 みゆき

المصدر: 脳と発達 / NO TO HATTATSU. 2022, 54(5):317

المؤلفون: Etsuro Ito, Hitoshi Kanno, Keiko Shimojima-Yamamoto, Shouichi Ohga, Taiju Utsugisawa, Toshitaka Uchiyama, Tsutomu Toki

المصدر: The Tohoku Journal of Experimental Medicine. 2021, 255(1):49

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: Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (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/d06c934531f645b5b3b06d6ea591b902

المؤلفون: Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto

المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (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/6f129f5d0b704eb3a0575142992aadfe

المؤلفون: Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno

المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-6 (2023)

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/f434ba04490942fdab9e164bc91d0e89

المؤلفون: Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto

المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)

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/50cae56a73014639a69ed6f79c46defc

المؤلفون: Osamu Machida, Haruko Sakamoto, Keiko Shimojima Yamamoto, Yuiko Hasegawa, Satoi Nii, Hidenori Okada, Kazuki Nishikawa, Shin-Ichi Sumimoto, Eriko Nishi, Nobuhiko Okamoto, Toshiyuki Yamamoto

المصدر: Intractable & Rare Diseases Research. 2024, 13(1):36-41

المؤلفون: Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Satoru Nagata, Toshiyuki Yamamoto

المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)

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/29ef0b91f46845918ebc8ee21f3bec24

المؤلفون: Keiko Shimojima Yamamoto, Taiju Utshigisawa, Hiromi Ogura, Takako Aoki, Takahiro Kawakami, Shoichi Ohga, Akira Ohara, Etsuro Ito, Toshiyuki Yamamoto, Hitoshi Kanno

المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)

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/bd96da2165d44c4086f36908541d61a1

المؤلفون: Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, Yusaku Miyamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Toshiyuki Yamamoto

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/7b4b5f1712354bf28cefbb8ecf7d6500

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: Yuma Nato, Yuki Kageyama, Kazutaka Suzuki, Keiko Shimojima Yamamoto, Hitoshi Kanno, Hiroyuki Miyashita

المصدر: Internal Medicine. 62:107-111

مصطلحات موضوعية: Internal Medicine, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::50c77f7722e0ee43c44d8f5ea83ad77e
https://doi.org/10.2169/internalmedicine.9478-22

المؤلفون: Satoshi Ekuni, Kei Hirayama, Miwako Nagasaka, Keita Osumi, Hidehito Kondo, Erina Nakahara, Keiko Shimojima Yamamoto, Hitoshi Kanno, Yoshinori Katayama

المصدر: American Journal of Case Reports. 24

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::de6c32c58b764257960b5c58db80f56b
https://doi.org/10.12659/ajcr.938396

المؤلفون: Toshiyuki Yamamoto, Kenjiro Kosaki, Yoshihiro Asano, Tadashi Kaname, Miho Nagata, Makiko Maeda, Makoto Funatsuka, Kumiko Yanagi, Yasuki Ishihara, Yohei Miyashita, Satoru Nagata, Yasushi Sakata, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Yusaku Miyamoto, Takuya Hirade

المصدر: American Journal of Medical Genetics Part A. 185:2895-2902

مصطلحات موضوعية: Male, 0301 basic medicine, HECT domain, Ubiquitin-Protein Ligases, Mutation, Missense, macromolecular substances, 030105 genetics & heredity, WW domain, 03 medical and health sciences, Japan, Seizures, Intellectual Disability, Genetics, medicine, Humans, Missense mutation, Exome, Child, Gene, Genetics (clinical), Exome sequencing, biology, Infant, Newborn, Infant, Protein ubiquitination, Hypotonia, Ubiquitin ligase, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, biology.protein, Muscle Hypotonia, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3f5f099976e97a42a3d028dded4479
https://doi.org/10.1002/ajmg.a.62363

المؤلفون: Yuma, Nato, Yuki, Kageyama, Kazutaka, Suzuki, Keiko, Shimojima Yamamoto, Hitoshi, Kanno, Hiroyuki, Miyashita

المصدر: Internal medicine (Tokyo, Japan). 62(1)

مصطلحات موضوعية: Heterozygote, Cytoskeletal Proteins, Polymorphism, Genetic, Mutation, Humans, Spherocytosis, Hereditary, Gilbert Disease, Glucuronosyltransferase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::12774a8386e25dcefd4435fac748bfa1
https://pubmed.ncbi.nlm.nih.gov/35650129

المؤلفون: Shouichi Ohga, Etsuro Ito, Keiko Shimojima-Yamamoto, Taiju Utsugisawa, Toshitaka Uchiyama, Hitoshi Kanno, Tsutomu Toki

المصدر: The Tohoku journal of experimental medicine. 255(1)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Erythrocytes, Adolescent, Anemia, Down-Regulation, Glucosephosphate Dehydrogenase, General Biochemistry, Genetics and Molecular Biology, Pentose Phosphate Pathway, Adenosine deaminase, Japan, Aminohydrolases, hemic and lymphatic diseases, parasitic diseases, medicine, Humans, Glycolysis, Diamond–Blackfan anemia, Child, Anemia, Diamond-Blackfan, biology, Chemistry, Bone marrow failure, Infant, General Medicine, medicine.disease, Molecular biology, Glutathione, Enzyme assay, Up-Regulation, Red blood cell, medicine.anatomical_structure, Case-Control Studies, Child, Preschool, biology.protein, Pyruvate kinase, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af8cb7193e7990631c5dff8e6f48349
https://pubmed.ncbi.nlm.nih.gov/34526430

المؤلفون: Toshiyuki Yamamoto, Yoshihiro Asano, Yasushi Sakata, Keiko Shimojima Yamamoto, Yohei Miyashita, Yasuki Ishihara, Tomoe Yanagishita, Hisako Yamamoto, Miho Nagata, Yusaku Miyamoto

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

مصطلحات موضوعية: WASF1, Pediatrics, medicine.medical_specialty, Adult patients, business.industry, Disease genetics, QH426-470, medicine.disease, Biochemistry, Hypotonia, Neurodevelopmental disorder, Life, QH501-531, Genetics research, Genetics, Data Report, Medicine, medicine.symptom, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9e122d8f15cd8536a713ae3f64ba754
https://pubmed.ncbi.nlm.nih.gov/34845217

المؤلفون: Takuya Hirade, Tadashi Kaname, Makoto Funatsuka, Toshiyuki Yamamoto, Yoshihiro Asano, Yusaku Miyamoto, Yasushi Sakata, Tomoe Yanagishita, Kumiko Yanagi, Makiko Maeda, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Shimojima Yamamoto, Kenjiro Kosaki, Satoru Nagata

المصدر: American Journal of Medical Genetics Part A. 185:3926-3927

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Genetics, Medicine, Medical genetics, Related disorder, business, Psychiatry, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28fe0fb3be252800485054b8821c0662
https://doi.org/10.1002/ajmg.a.62414

المؤلفون: Taiju Utsugisawa, Toshitaka Uchiyama, Tsutomu Toki, Keiko Shimojima-Yamamoto, Shouichi Ohga, Etsuro Ito, Hitoshi Kanno

المصدر: Tohoku Journal of Experimental Medicine; Sep2021, Vol. 255 Issue 1, p49-55, 7p