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المؤلفون: Celia Rodd, Arati Mokashi, Glenville Jones, Maury Pinsk, R. Todd Alexander, Caroline Zuijdwijk, Indra R. Gupta, Karlpiet Schlingmann, Munier Nour, Isabelle Rousseau-Nepton, Karine Khatchadourian, Martin Kaufmann, Danièle Pacaud
المصدر: Hormone Research in Paediatrics. 94:124-132
مصطلحات موضوعية: Proband, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Asymptomatic, Exon, Endocrinology, CYP24A1, Pathognomonic, Pediatrics, Perinatology and Child Health, Immunology, medicine, Vitamin D and neurology, Hypercalciuria, medicine.symptom, Nephrocalcinosis, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::24f60654ca33d998df1dd2a54e48aab4
https://doi.org/10.1159/000517548 -
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المؤلفون: Isabelle, Rousseau-Nepton, Glenville, Jones, Karlpiet, Schlingmann, Martin, Kaufmann, Caroline S, Zuijdwijk, Karine, Khatchadourian, Indra R, Gupta, Danièle, Pacaud, Maury N, Pinsk, Arati, Mokashi, Munier A, Nour, R Todd, Alexander, Celia J, Rodd
المصدر: Hormone research in paediatrics. 94(3-4)
مصطلحات موضوعية: Male, Canada, Base Sequence, Hypercalciuria, Infant, Exons, Sodium-Phosphate Cotransporter Proteins, Type IIa, Child, Preschool, Hypercalcemia, Humans, Female, Child, Vitamin D3 24-Hydroxylase, Retrospective Studies, Sequence Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dee6a508897f30459628018c3215eac2
https://pubmed.ncbi.nlm.nih.gov/34320495