Detalhe da pesquisa
1.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
JAMA Pediatr
; 171(12): e173438, 2017 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973083
2.
Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain.
Semin Pediatr Neurol
; 17(1): 69-74, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20434703