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1دورية أكاديمية
المؤلفون: Eltan, Mehmet, Yavas Abali, Zehra, Turkyilmaz, Ayberk, Gokce, Ibrahim, Abali, Saygın, Alavanda, Ceren, Arman, Ahmet, Kirkgoz, Tarik, Guran, Tulay, Hatun, Sukru, Bereket, Abdullah, Turan, SerapAff1, IDs0022302100928y_cor12
المصدر: Calcified Tissue International: and Musculoskeletal Research. 110(4):441-450
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2دورية أكاديمية
المؤلفون: Jingru Lu, Xiangzhong Zhao, Alessandro Paiardini, Yanhua Lang, Irene Bottillo, Leping Shao
المصدر: BMC Nephrology, Vol 19, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Familial hypomagnesaemia with Hypercalciuria and Nephrocalcinosis, Claudin 16, Mutation, Highly conserved motif, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Caroline Prot-Bertoye, Pascal Houillier
المصدر: Genes, Vol 11, Iss 3, p 290 (2020)
مصطلحات موضوعية: claudin 10b, claudin 16, claudin 19, claudin 14, kidney, tight junction, helix syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, sodium, divalent cations, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
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5دورية أكاديمية
المؤلفون: Lu, JingruAff1, Aff2, Zhao, Xiangzhong, Paiardini, Alessandro, Lang, Yanhua, Bottillo, Irene, Shao, LepingAff1, Aff2
المصدر: BMC Nephrology. 19(1)
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المؤلفون: Abdullah Bereket, Ceren Alavanda, Ayberk Türkyılmaz, Serap Turan, Ibrahim Gökce, Tulay Guran, Şükrü Hatun, Zehra Yavas Abali, Mehmet Eltan, Ahmet Arman, Saygin Abali, Tarik Kirkgoz
المساهمون: Eltan, Mehmet, Abali, Zehra Yavas, Turkyilmaz, Ayberk, Gokce, Ibrahim, Abali, Saygin, Alavanda, Ceren, Arman, Ahmet, Kirkgoz, Tarik, Guran, Tulay, Hatun, Sukru, Bereket, Abdullah, Turan, Serap
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Endocrinology, Diabetes and Metabolism, Hypercalciuria, Rickets, Gene mutation, Gastroenterology, CALCIUM, Hypomagnesemia, MECHANISMS, CA2+, Endocrinology, Internal medicine, medicine, Humans, PARACELLIN-1, Orthopedics and Sports Medicine, CLDN16, Child, PARATHYROID-HORMONE SECRETION, Claudin 16, Hyperparathyroidism, Hypocalcemia, RECEPTOR, business.industry, Infant, medicine.disease, Nephrocalcinosis, MAGNESIUM, Claudins, Mutation, Hypercalcemia, FHHNC, Female, Secondary hyperparathyroidism, CLAUDIN-16, business, Hypophosphatemia
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e04bf2fce1d32729919ce00cd9b7b3d
https://hdl.handle.net/11424/243653 -
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المؤلفون: Yanhua Lang, Irene Bottillo, Xiangzhong Zhao, Leping Shao, Jingru Lu, Alessandro Paiardini
المصدر: BMC Nephrology
BMC Nephrology, Vol 19, Iss 1, Pp 1-8 (2018)مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Delayed Diagnosis, Nonsense mutation, Hypercalciuria, 030232 urology & nephrology, Case Report, Familial hypomagnesaemia with Hypercalciuria and Nephrocalcinosis, lcsh:RC870-923, Gastroenterology, Protein Structure, Secondary, Hypomagnesemia, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Asian People, Leucine, Internal medicine, Medicine, Missense mutation, Humans, Family history, Claudin, Claudin 16, Highly conserved motif, Mutation, Nephrology, business.industry, lcsh:Diseases of the genitourinary system. Urology, medicine.disease, Pedigree, Nephrocalcinosis, 030104 developmental biology, Codon, Nonsense, Claudins, Female, business, Magnesium Deficiency
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8دورية أكاديمية
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9دورية أكاديمية
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تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.