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Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
- Published in:
- European Journal of Endocrinology, 2020, v. 183, n. 6, p. 581, doi. 10.1530/EJE-20-0474
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- Article
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 5, p. 481, doi. 10.1530/EJE-18-0042
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- Article
Growth Hormone Receptor (GHR) 6O Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e401, doi. 10.1210/clinem/dgab550
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- Article