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Nature Genetics|November 13, 2012
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementYu Sun, Beata Bak, Nadia Schoenmakers, et al.
Frontiers in Public Health|June 26, 2026
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research frameworkFernanda Fortunato, Rita Selvatici, Jan Kirschner, et al.
Nature Reviews. Endocrinology|August 13, 2025
Consensus on acromegaly therapeutic outcomes: an updateShlomo Melmed, Luigi di Filippo, Maria Fleseriu, et al.
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