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1.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cent Eur J Public Health
; 27(2): 153-159, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-31241292
2.
Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance.
Eur J Pediatr
; 171(6): 935-40, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22234478
3.
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.
J Pediatr Endocrinol Metab
; 32(7): 775-779, 2019 Jul 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-31199775
4.
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
Eur J Pediatr
; 167(7): 777-83, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-17876604
5.
Effective Doses of Employees at the Former Uranium Processing Plant MAPE Mydlovary, Czechoslovakia.
Radiat Prot Dosimetry
; 175(2): 171-177, 2017 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27765893
6.
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
Eur J Endocrinol
; 153(3): 389-96, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16131601
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