-
1
المؤلفون: Naoya Morisada, Tomoko Horinouchi, Tomohiko Yamamura, Kenji Ishikura, Kandai Nozu, China Nagano, Kazumoto Iijima, Nana Sakakibara, Riku Hamada
المصدر: Pediatrics International. 62(4):428-437
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, HNF1B, Genotype, Congenital chloride diarrhea, Hearing Loss, Sensorineural, Metabolic alkalosis, Hypokalemia, Bartter syndrome, Hypocalciuria, Tubulopathy, Pregnancy, medicine, Humans, pseudo-Gitelman syndrome, Solute Carrier Family 12, Member 1, pseudo-Bartter syndrome, business.industry, Alkalosis, Gitelman syndrome, medicine.disease, Phenotype, Pediatrics, Perinatology and Child Health, Failure to thrive, CASR, Female, Salts, medicine.symptom, business, congenital chloride diarrhea
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::550f5a6401c91fb4d827e9e8b4063947Test
http://www.lib.kobe-u.ac.jp/handle_kernel/90007099Test -
2دورية أكاديمية
المؤلفون: Hossein Saneian, Emad Bahraminia
المصدر: Journal of Research in Medical Sciences, Vol 18, Iss 9, Pp 822-824 (2013)
مصطلحات موضوعية: Congenital chloride diarrhea, hypochloremic and hypokalemic metabolic alkalosis, infants, pseudo-Bartter syndrome, Medicine
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Matsunoshita, Natsuki, Nozu, Kandai, Yoshikane, Masahide, Kawaguchi, Azusa, Fujita, Naoya, Morisada, Naoya, Ishimori, Shingo, Yamamura, Tomohiko, Minamikawa, Shogo, Horinouchi, Tomoko, Nakanishi, Keita, Fujimura, Junya, Ninchoji, Takeshi, Morioka, Ichiro, Nagase, Hiroaki, Taniguchi-Ikeda, Mariko, Kaito, Hiroshi, Iijima, Kazumoto
مصطلحات موضوعية: Pseudo-Bartter syndrome, Pseudo-Gitelman syndrome, Targeted sequencing, Next-generation sequencing, Congenital chloride diarrhea, SLC26A3
العلاقة: info:doi/10.1038/s10038-018-0470-7
-
4
المؤلفون: Kazumoto Iijima, Naoya Morisada, Mariko Taniguchi-Ikeda, Natsuki Matsunoshita, Tomohiko Yamamura, Shingo Ishimori, Shogo Minamikawa, Azusa Kawaguchi, Masahide Yoshikane, Takeshi Ninchoji, Keita Nakanishi, Hiroshi Kaito, Ichiro Morioka, Junya Fujimura, Tomoko Horinouchi, Kandai Nozu, Naoya Fujita, Hiroaki Nagase
المصدر: Journal of human genetics. 63(8)
مصطلحات موضوعية: 0301 basic medicine, Diarrhea, Male, Congenital chloride diarrhea, Dent Disease, SLC26A3, Pseudo-Gitelman syndrome, Compound heterozygosity, Bartter syndrome, Diagnosis, Differential, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Humans, 030212 general & internal medicine, Child, Genetics (clinical), Genetic testing, Sanger sequencing, biology, medicine.diagnostic_test, Pseudo-Bartter syndrome, Base Sequence, business.industry, Bartter Syndrome, Infant, Sequence Analysis, DNA, Gitelman syndrome, medicine.disease, 030104 developmental biology, biology.protein, symbols, Targeted sequencing, Next-generation sequencing, Female, business, Gitelman Syndrome, Metabolism, Inborn Errors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c916d4dd13d1599d912bfc4c117d2cTest
https://pubmed.ncbi.nlm.nih.gov/29849040Test -
5دورية أكاديمية
المؤلفون: Nozu, Kandai, Yamamura, Tomohiko, Horinouchi, Tomoko, Nagano, China, Sakakibara, Nana, Ishikura, Kenji, Hamada, Riku, Morisada, Naoya, Iijima, Kazumoto
مصطلحات موضوعية: Bartter syndrome, CASR, congenital chloride diarrhea, Gitelman syndrome, HNF1B, pseudo-Bartter syndrome, pseudo-Gitelman syndrome
العلاقة: info:doi/10.1111/ped.14089