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Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 7, p. 1367, doi. 10.1210/js.2019-00086
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- Publication type:
- Article
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
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- European Journal of Endocrinology, 2012, v. 167, n. 5, p. 625, doi. 10.1530/EJE-12-0410
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- Article
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families:Case report.
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- Human Reproduction, 2005, v. 20, n. 8, p. 2173, doi. 10.1093/humrep/dei052
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- Article
A novel screening method for pediatric urinary tract infection using ordinary diapers.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-76405-7
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- Article
Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 5, p. 305, doi. 10.1159/000439234
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- Article
Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2269, doi. 10.1002/ajmg.a.34152
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- Article
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5a-reductase type 2 deficiency.
- Published in:
- Endocrine Journal, 2019, v. 66, n. 9, p. 837, doi. 10.1507/endocrj.ej19-0111
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- Article
A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone.
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- 2016
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- Publication type:
- Case Study
Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report.
- Published in:
- Oral Science International, 2018, v. 15, n. 2, p. 90, doi. 10.1016/S1348-8643(18)30008-9
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- Publication type:
- Article