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Nature Genetics|December 14, 2004
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type IbMurat Bastepe, Leopold F Fröhlich, Agnès Linglart, et al.European Journal of Endocrinology|November 11, 2010
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysisAnne Marie Sbrocchi, Frank Rauch, Margaret L Lawson, et al.The Journal of Clinical Endocrinology and Metabolism|July 14, 2016
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt HypercalcemiaSheela Nampoothiri, Eduardo Fernández-Rebollo, Dhanya Yesodharan, et al.Endocrinology|February 28, 2004
Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasisTobias Larsson, Richard Marsell, Ernestina Schipani, et al.Plos One|April 28, 2017
Response of Npt2a knockout mice to dietary calcium and phosphorusYuwen Li, Daniel Caballero, Julian Ponsetto, et al.Plos One|July 13, 2011
Heterotopic ossifications in a mouse model of albright hereditary osteodystrophyDavid L Huso, Sarah Edie, Michael A Levine, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 7, 2026
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B)Andreea Apetrei, Nicolas Richard, Yorihiro Iwasaki, et al.BMC Genomics|October 22, 2015
Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chickenGuiyan Ni, Tim M Strom, Hubert Pausch, et al.European Journal of Medical Genetics|July 9, 2017
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic featuresKatja Kloth, Jonas Denecke, Maja Hempel, et al.Clinical Endocrinology|November 10, 2011
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidismHyon-Seung Yi, Young Sil Eom, Ie Byung Park, et al.Pageof 49