Detalhe da pesquisa
1.
Plasma and urine metabolic fingerprinting of type 1 diabetic children.
Electrophoresis
; 34(19): 2882-90, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23857511
2.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Am J Med Genet A
; 152A(6): 1390-7, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503313
3.
Follow-up and risk of tumors in overgrowth syndromes.
J Pediatr Endocrinol Metab
; 18 Suppl 1: 1227-35, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16398453
4.
[Mutation in DAX-1 gene as a cause of primary hypoadrenalism and hypogonadotropic hypogonadism]. / Insuficiencia suprarrenal primaria asociada a hipogonadismo hipogonadotrópico por mutación del gen DAX-1.
Med Clin (Barc)
; 133(13): 525, 2009 Oct 10.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19822252
5.
Individualised vs fixed dose of oral 17ß-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial.
Eur J Endocrinol
; 167(4): 523-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22807477
6.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Eur J Hum Genet
; 19(4): 416-21, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21248736
7.
Metabolomic approach to the nutraceutical effect of rosemary extract plus Ω-3 PUFAs in diabetic children with capillary electrophoresis.
J Pharm Biomed Anal
; 53(5): 1298-304, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20719450
8.
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
J Clin Endocrinol Metab
; 95(9): 4184-91, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20591980
9.
Insuficiencia suprarrenal primaria asociada a hipogonadismo hipogonadotrópico por mutación del gen DAX-1 / Mutation in DAX-1 gene as a cause of primary hypoadrenalism and hypogonadotropic hypogonadism
Med. clín (Ed. impr.)
; 133(13): 525-525, oct. 2009.
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-76082
10.
Osteoporosis y deformidades óseas: sospecha de síndrome de Winchester / Osteoporosis and skeletal deformities; suspicion of Winchester syndrome
Endocrinol. nutr. (Ed. impr.)
; 55(6): 274-277, jun. 2008. ilus, tab
Artigo
em Es
| IBECS (Espanha) | ID: ibc-66631
11.
Alteraciones de la función tiroidea en niños con cardiopatía congénita tras la realización de cateterismo con contrastes yodados / Thyroid function alterations in children with congenital cardiac disease after catheterization with Iodinated contrast agents
Rev. esp. cardiol. (Ed. impr.)
; 53(4): 517-524, abr. 2000.
Artigo
em Es
| IBECS (Espanha) | ID: ibc-2650