Found: 18
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Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves' thyrotoxicosis: a case report.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 3, p. 526, doi. 10.1093/hmg/ddr482
- By:
- Publication type:
- Article
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.
- Published in:
- 2015
- By:
- Publication type:
- journal article
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
- Published in:
- Sexual Development, 2016, v. 10, n. 4, p. 205, doi. 10.1159/000448726
- By:
- Publication type:
- Article
Selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks: a case report of a 7-year-old boy with autism spectrum disorder.
- Published in:
- BMC Nutrition, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40795-023-00703-2
- By:
- Publication type:
- Article
De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 139, doi. 10.1159/000355380
- By:
- Publication type:
- Article
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 116, doi. 10.1297/cpe.2022-0009
- By:
- Publication type:
- Article
Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 199, doi. 10.1297/cpe.2021-0069
- By:
- Publication type:
- Article
l-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 1, p. 15, doi. 10.1002/ccr3.1895
- By:
- Publication type:
- Article
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0039-9
- By:
- Publication type:
- Article
A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report.
- Published in:
- 2012
- By:
- Publication type:
- journal article
A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.730
- By:
- Publication type:
- Article
Glycogenic hepatopathy and non-alcoholic fatty liver disease in type 1 diabetes patients.
- Published in:
- Pediatrics International, 2013, v. 55, n. 6, p. 806, doi. 10.1111/ped.12235
- By:
- Publication type:
- Article
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 1, p. 10, doi. 10.1111/cen.13343
- By:
- Publication type:
- Article
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 8, p. 853, doi. 10.1507/endocrj.ej20-0011
- By:
- Publication type:
- Article