Detalhe da pesquisa
1.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
2.
Prevalence, risk factors, and optimal way to determine overweight, obesity, and morbid obesity in the first Dutch cohort of 2338 long-term survivors of childhood cancer: a DCCSS-LATER study.
Eur J Endocrinol
; 189(5): 495-507, 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837608
3.
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.
Am J Med Genet A
; 135(3): 297-301, 2005 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15887274