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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.
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.
Eur J Pediatr
; 177(11): 1697-1704, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30136145
3.
Effect of Hydrolyzed Infant Formula vs Conventional Formula on Risk of Type 1 Diabetes: The TRIGR Randomized Clinical Trial.
JAMA
; 319(1): 38-48, 2018 01 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29297078
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.
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene.
J Pediatr Endocrinol Metab
; 21(12): 1179-84, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19189692
6.
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.
Eur J Endocrinol
; 156(5): 521-9, 2007 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-17468187
7.
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Am J Hum Genet
; 75(1): 138-45, 2004 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15154116
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