Nora M. Sanguineti
B, Argentina
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 10, 2025
A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 10, 2025
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Journal: Frontiers in genetics
Published: December 12, 2023
An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.
Journal: Human molecular genetics
Published: January 30, 2023
A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
Published: November 05, 2019
p.R209H GH1 variant challenges short stature assessment.
Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
Published: August 20, 2019
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Journal: European journal of endocrinology
Published: July 19, 2019
Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis
Journal: Archivos argentinos de pediatria
Published: May 13, 2019
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
Journal: Molecular and cellular endocrinology
Published: August 07, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026