Browsing by Author "2df80a01-d8f2-42a0-a194-dce18428ee46"

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    • When genetic load does not correlate with phenotypic spectrum: Lessons from the GnRH receptor (GNRHR) 
      Gianetti, Elena; Hall, Janet E.; Au, Margaret G.; Kaiser, Ursula B.; Quinton, Richard; Stewart, Jane A.; Metzger, Daniel L.; Pitteloud, Nelly; Mericq, Verónica; Merino, Paulina M.; Levitsky, Lynne L.; Izatt, Louise; Lang-Muritano, Mariarosaria; Fujimoto, Victor Y.; Dlu (2012)
      Context: A broad spectrum of GnRH-deficient phenotypes has been identified in individuals with both mono- and biallelic GNRHR mutations. Objective: The objective of the study was to determine the correlation between the ...