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المؤلفون: Petra van Setten, Amanda Branten, Dirk Lefeber, Uwe Kornak, Eva Morava, Sascha Vermeer, Jefte M. Drijvers, Charles W. O'Neill, Alphons de Jong, Ron A. Wevers, Cor W. R. J. Cremers, Joris H. Robben, Angelien Heister, Jirko Kühnisch, Hedi L Claahsen-van der Grinten, Michèl A.A.P. Willemsen, Peter M.T. Deen, Hannie Kremer, Krysta Voesenek, Sabine Stumpp
المصدر: Journal of Clinical Endocrinology and Metabolism, 96, 1, pp. E189-98
Journal of Clinical Endocrinology and Metabolism, 96, E189-98مصطلحات موضوعية: medicine.medical_specialty, Hypophosphatemia, Hearing loss, Endocrinology, Diabetes and Metabolism, Ankylosis, Clinical Biochemistry, Mutant, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Consanguinity, Deafness, Neuroinformatics [DCN 3], Biology, Biochemistry, Genomic disorders and inherited multi-system disorders [IGMD 3], Gene product, Endocrinology, JCEM Online: Advances in the Genetics, Intellectual Disability, Internal medicine, medicine, Humans, Phosphate Transport Proteins, Missense mutation, Genetics, Hormonal regulation [IGMD 6], Biochemistry (medical), Calcinosis, Heterozygote advantage, Glycostation disorders [IGMD 4], medicine.disease, Pedigree, Bone Diseases, Metabolic, Phenotype, Editorial, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Mutation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Joints, medicine.symptom, Perception and Action Glycostation disorders [DCN 1]
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