Detalhe da pesquisa
1.
Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study.
BMC Public Health
; 16(1): 1021, 2016 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27682602
2.
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
PLoS Genet
; 8(8): e1002896, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22927827
3.
Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.
J Am Soc Nephrol
; 22(11): 1997-2003, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21903996
4.
A Case of Syndromic X-linked Ichthyosis with Léri-Weill Dyschondrosteosis.
Acta Derm Venereol
; 96(6): 814-5, 2016 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26832328
5.
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
J Clin Endocrinol Metab
; 99(10): E2138-43, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25077900
6.
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Lancet Diabetes Endocrinol
; 1(3): 199-207, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24622368
7.
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.
J Pediatr
; 141(4): 483-9, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12378186