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المؤلفون: G. Pérez de Nanclares Leal, M. Ubetagoyena Arrieta, R. Areses Trapote, M. Imaz Murguiondo, D. Arruebarrena Lizarraga, L. Castaño González
المصدر: Anales de Pediatría, Vol 74, Iss 1, Pp 47-50 (2011)
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Hyperparathyroidism, Familial hypocalciuric hypercalcemia, endocrine system diseases, business.industry, nutritional and metabolic diseases, medicine.disease, Pediatrics, RJ1-570, Endocrinology, Internal medicine, Calcium-sensing receptor, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), New mutation, medicine, business, hormones, hormone substitutes, and hormone antagonists, High penetrance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6608ae4cc7e8d08278972bb2dae99aTest
https://doi.org/10.1016/j.anpedi.2010.10.001Test -
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المصدر: Anales de Pediatría, Vol 81, Iss 6, Pp e46-e47 (2014)
مصطلحات موضوعية: Genetics, CHARGE syndrome, Chd7 gene, Pediatrics, Perinatology and Child Health, New mutation, medicine, Biology, medicine.disease, Pediatrics, RJ1-570
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d356975a83c0dfe08d08f9a25d8ab27Test
http://www.sciencedirect.com/science/article/pii/S1695403314000927Test -
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المصدر: Anales de Pediatría, Vol 82, Iss 3, Pp 207-208 (2015)
مصطلحات موضوعية: Genetics, Pediatrics, Perinatology and Child Health, New mutation, medicine, Biology, medicine.disease, Gene, Fraser syndrome, Pediatrics, RJ1-570
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622f6f2d0f80135b9bbb94f45f04d759Test
http://www.sciencedirect.com/science/article/pii/S169540331400215XTest