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1دورية أكاديمية
المؤلفون: Maki Gau, Ryota Suga, Atsushi Hijikata, Ayako Kashimada, Masatoshi Takagi, Ryuichi Nakagawa, Kei Takasawa, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio
المصدر: Frontiers in Endocrinology, Vol 13 (2023)
مصطلحات موضوعية: NR5A1, NR5A2, orphan nuclear receptor, 46,XY DSD, co-factors, ligands, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hisae Nakatani, Kei Takasawa, Tomomi Yamaguchi, Tomoki Kosho, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morio, Osamu Ohara, Kenichi Kashimada
المصدر: Journal of Clinical Endocrinology & Metabolism; Mar2024, Vol. 109 Issue 3, p750-760, 11p
مصطلحات موضوعية: HYDROXYLASES, ENZYME deficiency, POLYMERASE chain reaction
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المؤلفون: Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada
المصدر: The Journal of Clinical Endocrinology & Metabolism. 107:3341-3352
مصطلحات موضوعية: Male, Hydrocortisone, Adrenal Hyperplasia, Congenital, 17-alpha-Hydroxyprogesterone, Endocrinology, Diabetes and Metabolism, Cortodoxone, Biochemistry (medical), Clinical Biochemistry, Infant, Newborn, Androstenedione, Endocrine System Diseases, Biochemistry, Neonatal Screening, Endocrinology, Tandem Mass Spectrometry, Androgens, Humans, Female, Steroids, Chromatography, Liquid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c40350f8a13a4ea774267097215279
https://doi.org/10.1210/clinem/dgac521 -
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المؤلفون: Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada
المصدر: Sexual Development.
مصطلحات موضوعية: Embryology, Endocrinology, Diabetes and Metabolism, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f628ba783d7666128fe853242888ffc0
https://doi.org/10.1159/000529720 -
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المؤلفون: Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Hideya Kawaji, Yasuhiro Murakawa, Shuji Takada, Masashi Mikami, Satoshi Narumi, Maki Fukami, Rajini Sreenivasan, Tetsuo Maruyama, Elena J Tucker, Liang Zhao, Josephine Bowles, Andrew Sinclair, Peter Koopman, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada
المصدر: Human Molecular Genetics. 31:2223-2235
مصطلحات موضوعية: Time Factors, Menopause, Premature, Genetic Variation, General Medicine, Primary Ovarian Insufficiency, Mice, Enhancer Elements, Genetic, Genetics, Animals, Humans, RNA, Female, Molecular Biology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf4a2e847fd5bbb7f0dfd65cea2d1fa
https://doi.org/10.1093/hmg/ddac023 -
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المؤلفون: Shigeru Takishima, Tomohiro Morio, Takeru Yamauchi, Akito Sutani, Atsumi Hosokawa-Tsuji, Ryuichi Nakagawa, Yuichi Miyakawa, Maki Gau, Yoko Saito, Yohei Matsubara, Kei Takasawa, Kenichi Kashimada
المصدر: Clinical Pediatric Endocrinology
مصطلحات موضوعية: medicine.medical_specialty, Newborn screening, Pediatric endocrinology, medicine.drug_class, Maintenance dose, business.industry, Endocrinology, Diabetes and Metabolism, 21-hydroxylase deficiency, initial therapy, Androgen, medicine.disease, Gastroenterology, Endocrinology, Maintenance therapy, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Original Article, Congenital adrenal hyperplasia, business, hydrocortisone dose, Glucocorticoid, Hydrocortisone, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6fa1152cfceafb112b02cc60071a04d
https://doi.org/10.1297/cpe.30.155 -
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المؤلفون: Atsuko Hashimoto, Kaoru Konishi, Tomohiro Morio, Atsumi Tsuji-Hosokawa, Tomonobu Hasegawa, Ryuichi Nakagawa, Akito Sutani, Maki Gau, Kenichi Kashimada, Toshihiro Tajima, Kei Takasawa
المصدر: Clinical Endocrinology. 94:229-236
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Hyperkalemia, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Body weight, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Retrospective Studies, Newborn screening, Adrenal Hyperplasia, Congenital, biology, business.industry, Body Weight, Infant, Newborn, 21-Hydroxylase, Adrenal crisis, medicine.disease, 030220 oncology & carcinogenesis, biology.protein, Female, Steroid 21-Hydroxylase, medicine.symptom, business, Salt-wasting, Hyponatremia
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المؤلفون: Shizuka Kirino, Mitsuyoshi Suzuki, Takuya Ogawa, Kei Takasawa, Eriko Adachi, Maki Gau, Ken Takahashi, Mitsuru Ikeno, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Keiji Moriyama, Masayuki Yoshida, Tomohiro Morio, Kenichi Kashimada
المصدر: European Journal of Medical Genetics. 65:104623
مصطلحات موضوعية: Cleft Palate, Male, Angiomotins, Cleft Lip, Liver Diseases, Genetics, Humans, Membrane Proteins, General Medicine, Child, Genetics (clinical)
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المؤلفون: Tomohiro Morio, Takahiro Kamiya, Shizuka Kirino, Maki Gau, Akihiro Hoshino, Takeru Yamauchi, Hirokazu Kanegane, Kento Inoue, Kei Takasawa, Kenichi Kashimada
المصدر: Pediatric Diabetes. 20:1035-1040
مصطلحات موضوعية: Diarrhea, Male, medicine.medical_specialty, Adolescent, endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, chemical and pharmacologic phenomena, 030209 endocrinology & metabolism, Hematopoietic stem cell transplantation, medicine.disease_cause, Gastroenterology, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, immune system diseases, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Insulin, Glucose homeostasis, 030212 general & internal medicine, Type 1 diabetes, business.industry, Remission Induction, Hematopoietic Stem Cell Transplantation, nutritional and metabolic diseases, Forkhead Transcription Factors, Genetic Diseases, X-Linked, Immune dysregulation, IPEX syndrome, medicine.disease, Diabetes Mellitus, Type 1, Treatment Outcome, surgical procedures, operative, Immune System Diseases, Mutation, Pediatrics, Perinatology and Child Health, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db7151c204701c864b6250c076044df
https://doi.org/10.1111/pedi.12895 -
10Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation
المؤلفون: Tomohiro Morio, Kenichi Kashimada, Yoko Saito, Atsuko Taki, Ryuichi Nakagawa, Tsunanori Shidei, Eriko Adachi, Kei Takasawa, Akito Sutani, Maki Gau, Yuichi Miyakawa
المصدر: Clinical endocrinologyREFERENCES. 94(6)
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Sulfonylurea Receptors, ABCC8, 03 medical and health sciences, Exon, Splicing factor, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Gene, Genetics, Mutation, Diazoxide, medicine.disease, Phenotype, Biological Variation, Population, 030220 oncology & carcinogenesis, RNA splicing, Congenital hyperinsulinism, biology.protein, Congenital Hyperinsulinism