Found: 7
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Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Autoimunitní onemocnění štítné žlázy v ordinaci PLDD.
- Published in:
- Pediatrie pro Praxi, 2018, v. 19, n. 1, p. 13
- By:
- Publication type:
- Article
Thyroidectomy in a Patient with Multinodular Dyshormonogenetic Goitre - A Case of Pendred Syndrome Confirmed by Mutations in the PDS/SLC26A4 Gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 12, p. 1179, doi. 10.1515/JPEM.2008.21.12.1179
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- Publication type:
- Article
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.
- Published in:
- European Journal of Endocrinology, 2007, v. 156, n. 5, p. 521, doi. 10.1530/EJE-06-0709
- By:
- Publication type:
- Article
Effect of Hydrolyzed Infant Formula vs Conventional Formula on Risk of Type 1 Diabetes: The TRIGR Randomized Clinical Trial.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
- Published in:
- 2019
- By:
- Publication type:
- journal article