Detalhe da pesquisa
1.
Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus.
Pituitary
; 15 Suppl 1: S1-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20401697
2.
Nephrogenic syndrome of inappropriate antidiuresis.
N Engl J Med
; 352(18): 1884-90, 2005 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-15872203
3.
Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.
J Mol Diagn
; 7(2): 283-8, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15858153
4.
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).
J Mol Diagn
; 7(2): 236-46, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15858147
5.
Hyponatremia resulting from arginine vasopressin receptor 2 gene mutation.
Pediatr Nephrol
; 22(3): 463-6, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17115194
6.
Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.
Genet Med
; 9(1): 46-51, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17224689
7.
Identification of four gene variants associated with myocardial infarction.
Am J Hum Genet
; 77(4): 596-605, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16175505