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Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.724625
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- Publication type:
- Article
RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63576
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- Publication type:
- Article
Macrocalcitonin Is a Novel Pitfall in the Routine of Serum Calcitonin Immunoassay.
- Published in:
- 2016
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- Publication type:
- journal article
Three Years Follow-up of Pamidronate Therapy in Two Brothers with Osteoporosis-Pseudoglioma Syndrome (OPPG) Carrying an LRP5 Mutation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 8, p. 811
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- Publication type:
- Article
Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A.
- Published in:
- European Journal of Endocrinology, 2017, v. 176, n. 5, p. 515, doi. 10.1530/EJE-16-1021
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- Publication type:
- Article
Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma.
- Published in:
- Molecular Medicine Reports, 2016, v. 13, n. 2, p. 1653, doi. 10.3892/mmr.2015.4731
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- Publication type:
- Article
Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
- Published in:
- BMC Endocrine Disorders, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12902-020-0500-2
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- Publication type:
- Article
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
- Published in:
- Endocrine (1355008X), 2018, v. 62, n. 3, p. 628, doi. 10.1007/s12020-018-1673-6
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- Publication type:
- Article
Outcome of Thyroid Function in Newborns from Mothers Treated with Amiodarone.
- Published in:
- Thyroid, 1992, v. 2, n. 4, p. 279, doi. 10.1089/thy.1992.2.279
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- Publication type:
- Article
Increases in summer serum 25-hydroxyvitamin D(25OHD) concentrations in elderly subjects in SãoPaulo, Brazil vary with age, gender and ethnicity.
- Published in:
- BMC Endocrine Disorders, 2010, v. 10, p. 12, doi. 10.1186/1472-6823-10-12
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- Publication type:
- Article