Found: 7
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Growth Hormone Receptor (GHR) 6O Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e401, doi. 10.1210/clinem/dgab550
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- Article
Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?
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- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00253
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- Article
Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.
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- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 1, p. 91, doi. 10.1515/jpem-2022-0365
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- Article
MKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 3, p. 190, doi. 10.1159/000493134
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- Article
MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study.
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- Endocrine (1355008X), 2018, v. 59, n. 1, p. 203, doi. 10.1007/s12020-017-1281-x
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- Article
Central precocious puberty during COVID-19 pandemic and sleep disturbance: an exploratory study.
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01256-z
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- Article
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-28
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- Article