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American Journal of Human Genetics|February 9, 2010
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic ricketsBettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, et al.Peptides|October 10, 2006
Synthesis and characterization of novel biotinylated carboxyl-terminal parathyroid hormone peptides that specifically crosslink to the CPTH-receptorSantanu Banerjee, Hafez Selim, Gihan Suliman, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|September 14, 2017
Pseudohypoparathyroidism type 1B associated with assisted reproductive technologyMonica Fernandez, Maria Jose Zambrano, Joel Riquelme, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 10, 2022
Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)Danny E Miller, Patrick Hanna, Miranda Galey, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|July 16, 2010
Pilot study of dietary phosphorus restriction and phosphorus binders to target fibroblast growth factor 23 in patients with chronic kidney diseaseTamara Isakova, Orlando M Gutiérrez, Kelsey Smith, et al.Journal of the American Society of Nephrology : JASN|May 27, 2005
Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney diseaseOrlando Gutierrez, Tamara Isakova, Eugene Rhee, et al.Journal of the American Society of Nephrology : JASN|July 29, 2005
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2Jeffery Fletcher, Min Hu, Yemima Berman, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 28, 2006
Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and womenSherri -Ann M Burnett, Samantha C Gunawardene, F Richard Bringhurst, et al.American Journal of Medical Genetics. Part A|December 2, 2017
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1AKatia M Perez, Evon B Lee, Sachini Kahanda, et al.Ebiomedicine|February 18, 2022
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databasesHana Kolarova, Jing Tan, Tim M Strom, et al.Pageof 49