Detalhe da pesquisa
1.
Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.
Matern Child Health J
; 18(5): 1233-45, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24101435
2.
2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.
Am J Med Genet A
; 158A(11): 2767-74, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23023937
3.
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Mol Genet Metab
; 100(4): 333-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20547083
4.
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Mol Genet Metab
; 96(3): 97-105, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19138872
5.
Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.
J Pediatr
; 152(5): 731-3, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18410783
6.
Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance.
Int J Neonatal Screen
; 4(2): 16, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29862374
7.
The influence of maternal disease on metabolites measured as part of newborn screening.
J Matern Fetal Neonatal Med
; 26(14): 1380-3, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23550828
8.
Standardizing newborn screening results for health information exchange.
AMIA Annu Symp Proc
; 2010: 1-5, 2010 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21346929
9.
A review of newborn screening in the era of tandem mass spectrometry: what's new for the pediatric neurologist?
Semin Pediatr Neurol
; 15(3): 110-6, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18708000
10.
Feeding and swallowing dysfunction in genetic syndromes.
Dev Disabil Res Rev
; 14(2): 147-57, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18646013