-
1دورية أكاديمية
المؤلفون: Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, Yoshikiyo Akasaka
المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100849- (2022)
مصطلحات موضوعية: Menkes disease, Early treatment, Early symptom, Prognosis, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S221442692200009XTest; https://doaj.org/toc/2214-4269Test
-
2دورية أكاديمية
المؤلفون: Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100610- (2020)
مصطلحات موضوعية: Bezafibrate, TFP deficiency, Myalgia, Rhabdomyolysis, Fatty acid β-oxidation disorders (FAODs), l-carnitine, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920300562Test; https://doaj.org/toc/2214-4269Test
-
3دورية أكاديمية
المؤلفون: Hirokazu Tsukahara, Hironori Nagasaka, Masaki Takayanagi
المصدر: The Journal of Toxicological Sciences. 2009, 34(Special_):229
-
4دورية أكاديمية
المؤلفون: Hironori Kobayashi, Masaki Takayanagi, Naomi Kondo, Seiji Yamaguchi, Takahide Teramoto, Tetsuhiko Yasuno, Tomohiro Hori, Toshiyuki Fukao, Yuki Hasegawa
المصدر: The Tohoku Journal of Experimental Medicine. 2010, 221(3):191
-
5دورية أكاديمية
-
6دورية أكاديمية
المؤلفون: Fumiko Nakamura, Masaki Takayanagi, Nozomu Sasaki, Shigeki Miyamoto, 中村 文子, 佐々木 望, 宮本 茂樹, 高柳 正樹
المصدر: 糖尿病 / Journal of the Japan Diabetes Society. 1983, 26(11):1081
-
7
المؤلفون: Toshiyuki Imasawa, Kei Murayama, Takaaki Sawada, Masanori Hirose, Masaki Takayanagi, Kimitoshi Nakamura
المصدر: Clinical and Experimental Nephrology. 27:288-294
مصطلحات موضوعية: Nephrology, Physiology, Physiology (medical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239ce064fb7ea803c069cae14c5219caTest
https://doi.org/10.1007/s10157-022-02295-wTest -
8
المؤلفون: Kei Murayama, Naomi Kuranobu, Masato Mori, Yue Yao, Takayuki Ishige, Minako Beppu, Masaki Takayanagi, Sakae Itoga, Yasushi Okazaki, Masataka Yokoyama, Tomoaki Tanaka, Motoi Nishimura, Yoshihito Kishita, Fumio Nomura, Satomi Tojo, Kazuyuki Yamagata, Kazuyuki Matsushita, Sachio Tsuchida
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Mitochondrial Diseases, Loop-mediated isothermal amplification, lcsh:Medicine, Computational biology, Genome, Human mitochondrial genetics, Polymerase Chain Reaction, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Gene Frequency, Humans, Genetic Testing, lcsh:Science, Alleles, Whole genome sequencing, Sanger sequencing, Multidisciplinary, Molecular medicine, Whole Genome Sequencing, lcsh:R, Chromosome Mapping, Genetic Variation, Diagnostic markers, Genomics, Sequence Analysis, DNA, Heteroplasmy, 030104 developmental biology, Molecular Diagnostic Techniques, Rolling circle replication, Genome, Mitochondrial, symbols, lcsh:Q, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7471905fd57c52dcc450680058abb44Test
http://link.springer.com/article/10.1038/s41598-019-53449-yTest -
9
المؤلفون: Toshihiro Ohura, Masaki Takayanagi, Fumio Endo, Masafumi Matuo, Yoichi Matsubara, Torayuki Okuyama, Yoshiyuki Okano, Kimitoshi Nakamura, Haruo Shintaku, Hiroyuki Ida, Makoto Yoshino, Tetsuya Ito, Shigeo Kure, Misao Owada
المصدر: Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 63(1)
مصطلحات موضوعية: inorganic chemicals, Pediatrics, medicine.medical_specialty, Phenylketonuria, Maternal, Phenylalanine hydroxylase, Phenylalanine, 030204 cardiovascular system & hematology, Blood phenylalanine, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, Japan, Pregnancy, 030225 pediatrics, Phenylketonurias, medicine, Humans, heterocyclic compounds, Maternal phenylketonuria, Tetrahydrobiopterin deficiency, biology, business.industry, Phenylalanine Hydroxylase, Tetrahydrobiopterin, medicine.disease, Biopterin, Phenotype, Pediatrics, Perinatology and Child Health, cardiovascular system, biology.protein, Female, business, circulatory and respiratory physiology, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517db9e8c26158416fef6a38729837beTest
https://pubmed.ncbi.nlm.nih.gov/33423362Test -
10
المؤلفون: Tsutomu Takahashi, Hiroshi Komatsu, Shigenori Yamamoto, Rika Kizu, Torayuki Okuyama, Yutaka Shoji, Kei Murayama, Yuhei Takasago, Fumio Endo, Kimitoshi Nakamura, Atsuko Noguchi, Masaki Takayanagi
المصدر: Pediatrics International. 58:979-983
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, medicine.medical_specialty, business.industry, Incidence (epidemiology), medicine.disease, medicine.disease_cause, Lysinuric protein intolerance, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genotype-phenotype distinction, Internal medicine, Pediatrics, Perinatology and Child Health, Genotype, Epidemiology, medicine, Young adult, business, 030217 neurology & neurosurgery, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ce64c7e3013ac28898752b771643f8b0Test
https://doi.org/10.1111/ped.12946Test