Browsing by Author "6fbb01fb-d239-4d80-ad90-740725f87c58"

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    • Diagnostic controversy: The diagnosis of childhood growth hormone deficiency revisited 
      Rosenfeld, Ron G.; Albertsson-Wikland, Kerstin; Cassorla Goluboff, Fernando; Frasier, S. Douglas; Hasegawa, Yukihiro; Hintz, Raymond L.; Lafranchi, Stephen; Lippe, Barbara; Loriaux, Lynn; Melmed, Shlomo; Preece, Michael A.; Ranke, Michael B.; Reiter, Edward O.; Rogol, Alan D.; ; Underwood, Louis E.; Werther, George A. (1995)
    • Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies 
      Ocaranza Osses, Paula; Golekoh, Marjorie C.; Andrew, Shayne F.; Guo, Michael H.; Kaplowitz, Paul; Saal, Howard; Rosenfeld, Ron G.; Dauber, Andrew; Cassorla Goluboff, Fernando; Backeljauw, Philippe F.; Hwa, Vivian (Karger, 2017)
      Background: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal ...