Résultats de la recherche - David E.C. Cole
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Inherited Disorders of Renal Magnesium Handling par David E.C. Cole, Gary A. Quamme
Publié 2000Revisão -
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Glial Cells Missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism par Lucie Canaff, Xiang Zhou, Irina Mosesova, David E.C. Cole, Geoffrey N. Hendy
Publié 2008Artigo -
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Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia par Geoffrey N. Hendy, Lilia Freire Rodrigues D’Souza-Li, Bing Yang, Lucie Canaff, David E.C. Cole
Publié 2000Revisão -
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CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dom... par Svetlana Pidasheva, Lilia Freire Rodrigues D’Souza-Li, Lucie Canaff, David E.C. Cole, Geoffrey N. Hendy
Publié 2004Artigo -
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Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyr... par Ming Bai, Natasa Janicic, Sweety Trivedi, Stephen Quinn, David E.C. Cole, Edward M. Brown, Geoffrey N. Hendy
Publié 1997Artigo -
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Codon Arg15 Mutations of the<i>AP2S1</i>Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (<i>CASR</i>) Mutations par Geoffrey N. Hendy, Lucie Canaff, Ron S. Newfield, Liana Tripto-Shkolnik, Betty Wong, Bonnie S. P. Lee, David E.C. Cole
Publié 2014Artigo -
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Serum 25-Hydroxyvitamin D Concentrations Fluctuate Seasonally in Young Adults of Diverse Ancestry Living in Toronto , par Agnes Gozdzik, Jodi Lynn Barta, A. J. Weir, David E.C. Cole, Reinhold Vieth, Susan J. Whiting, Esteban J. Parra
Publié 2010Artigo -
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In Healthy Adults, Biological Activity of Vitamin D, as Assessed by Serum PTH, Is Largely Independent of DBP Concentrations par Zari Dastani, Claudie Berger, Lisa Langsetmo, Lei Fu, Betty Wong, Suneil Malik, David Goltzman, David E.C. Cole, J. Brent Richards
Publié 2013Artigo
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Medicine
Internal medicine
Biology
Genetics
Endocrinology
Gene
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Vitamin D and neurology
Calcium
Population
Environmental health
Calcium-sensing receptor
Chemistry
Hyperparathyroidism
Missense mutation
Parathyroid hormone
Vitamin
Allele
Calcium metabolism
vitamin D deficiency
Breast cancer
Cancer
Demography
Oncology
Sociology
Genotype
Germline mutation
Haplotype
Pediatrics
Physiology