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المؤلفون: Akari NAGASAKI, Daisuke YAMAGUCHI, Shuichi WAKIMOTO, Takefumi KANDA
المصدر: The Proceedings of the Machine Design and Tribology Division meeting in JSME. :2103
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e6b9b4c713855cb9e5122f4f79137e3
https://doi.org/10.1299/jsmemdt.2021.20.2103 -
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المؤلفون: Shuji Fukagawa, Takashi Hashimoto, Kazunori Urabe, Teruki Dainichi, Daisuke Sawamura, YooHyun Song, Masutaka Furue, Seiji Naito, Wataru Nishie, Toshiyuki Tsunoda, Akira Yokomizo, Akari Nagasaki, Kenjiro Imada, Hiroshi Shimizu
المصدر: British Journal of Dermatology. 160:1350-1353
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Cancer, Dermatology, medicine.disease, Birt–Hogg–Dubé syndrome, Trichoblastoma, Renal cell carcinoma, medicine, Oncocytoma, Fibroma, Folliculin, business, Clear cell
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المؤلفون: Hiroshi Shimizu, Akari Nagasaki, Tadamichi Shimizu, Masashi Akiyama, Ken Natsuga, Wataru Nishie, Masatoshi Kanda
المصدر: British Journal of Dermatology. 160:465-468
مصطلحات موضوعية: Genetics, Mutation (genetic algorithm), medicine, Pachyonychia congenita, Missense mutation, Dermatology, Biology, Steatocystoma multiplex, medicine.disease, Keratin disease, Keratin 17, Molecular biology, Genetic analysis
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المؤلفون: Akari Nagasaki, Hideki Akitsu, Kozo Sato, Ikuko Oba, Emiko Noguchi, Daisuke Sawamura, Wataru Nishie, Hiroshi Shimizu
المصدر: Journal of Dermatological Science. 52:61-64
مصطلحات موضوعية: Genetics, Fabry disease, business.industry, heterozygous female, Dermatology, genotype-phenotype correlation, medicine.disease, Biochemistry, Genetic analysis, Heterozygous female, Medicine, novel mutation, business, Molecular Biology, Novel mutation
وصف الملف: application/pdf
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المؤلفون: Masashi Akiyama, Aileen Sandilands, Toshifumi Nomura, Hiroshi Shimizu, Kaori Sakai, Ikue Nemoto-Hasebe, Colin N. A. Palmer, Alan Evans, W.H. Irwin McLean, Akari Nagasaki, Hiroo Hata, Mitsuhito Ota
المصدر: Journal of Investigative Dermatology. 128(6):1436-1441
مصطلحات موضوعية: Heterozygote, Genotype, Genetic Linkage, DNA Mutational Analysis, Nonsense mutation, Dermatology, Filaggrin Proteins, Ichthyosis Vulgaris, medicine.disease_cause, Biochemistry, Dermatitis, Atopic, Cohort Studies, Atopy, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Intermediate Filament Proteins, Japan, Odds Ratio, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, 030304 developmental biology, 0303 health sciences, Mutation, business.industry, Case-control study, Atopic dermatitis, Cell Biology, medicine.disease, 3. Good health, Phenotype, Case-Control Studies, Immunology, business, Ichthyosis vulgaris, Filaggrin
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المؤلفون: Daisuke Sawamura, Teruhiko Makino, Kotaro Matsui, Hiroshi Shimizu, Tadamichi Shimizu, Megumi Furuichi, Akari Nagasaki, Hirokazu Watanabe
المصدر: Journal of Dermatological Science. 48:151-153
مصطلحات موضوعية: Leiomyomatosis, business.industry, Fumarase, Cancer research, Medicine, Dermatology, business, Molecular Biology, Biochemistry, Novel mutation, Gene
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المؤلفون: H Kawasaki, Rieko Isogai, Akari Nagasaki, Hideki Nakamura, Yukiko Nomura, Hiroshi Shimizu, Maki Goto, Daisuke Sawamura, Masataka Abe
المصدر: Journal of Dermatological Science. 47:165-167
مصطلحات موضوعية: Male, business.industry, Integrin beta4, Nonsense mutation, Intestinal Atresia, Mutation, Missense, Pyloric Atresia, Dermatology, Junctional epidermolysis bullosa (medicine), medicine.disease, Biochemistry, Molecular biology, Pedigree, Transmembrane domain, Mutation (genetic algorithm), medicine, Humans, Missense mutation, Child, Epidermolysis Bullosa, business, Molecular Biology, Pylorus
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المؤلفون: Leena Bruckner-Tuderman, Yoshiaki Hirako, Hiroshi Shimizu, Cristina Has, Akira Ishiko, Masashi Akiyama, Satoru Shinkuma, Akari Nagasaki, Takeshi Ouchi, Daisuke Sawamura, James R. McMillan, Wataru Nishie, Hideki Nakamura, Ken Natsuga, Katsushi Owaribe
المصدر: Human mutation. 31(3)
مصطلحات موضوعية: Gene isoform, Keratinocytes, DNA Mutational Analysis, macromolecular substances, Biology, medicine.disease_cause, Epidermolysis bullosa simplex, Exon, Genetics, medicine, Humans, Protein Isoforms, RNA, Messenger, Muscular dystrophy, Muscle, Skeletal, Genetics (clinical), Mutation, Models, Genetic, Plectin, Exons, Fibroblasts, medicine.disease, Phenotype, Molecular biology, Protein Structure, Tertiary, Microscopy, Fluorescence, Epidermolysis Bullosa Simplex, Epidermolysis bullosa, Algorithms
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المؤلفون: Teruki Yanagi, Akari Nagasaki, Kaori Sakai, Haruhiko Sago, Hiroshi Shimizu, Masashi Akiyama, Rika Kosaki, Nobuaki Ozawa
المصدر: Journal of the American Academy of Dermatology. 58(4)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Molecular Sequence Data, Prenatal diagnosis, Dermatology, Pregnancy, Prenatal Diagnosis, Congenital ichthyosis, Biopsy, medicine, Humans, ABCA12, Fetus, biology, medicine.diagnostic_test, Base Sequence, Ichthyosis, business.industry, Sequence Analysis, DNA, Harlequin Ichthyosis, medicine.disease, Amniotic Fluid, genomic DNA, biology.protein, ATP-Binding Cassette Transporters, Female, business, Ichthyosis, Lamellar
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المؤلفون: Toshifumi Nomura, Hiroshi Shimizu, Frances J.D. Smith, Colin N. A. Palmer, W.H. Irwin McLean, Masashi Akiyama, Ikue Nemoto-Hasebe, Aileen Sandilands, Kaori Sakai, Akari Nagasaki
المصدر: Journal of Investigative Dermatology. (5):1302-1305
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Atopic dermatitis, Cell Biology, Dermatology, Biology, medicine.disease, Biochemistry, body regions, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Rare mutations, Immunology, medicine, Gene, Molecular Biology, 030304 developmental biology, Filaggrin, Ichthyosis vulgaris
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09f15ccef8b18c1a691de10b5a65b7a2