Detalhe da pesquisa
1.
An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance.
Eur J Hum Genet
; 16(10): 1217-24, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18493265
2.
Committee Report: advancing the current recommended panel of conditions for newborn screening.
Genet Med
; 9(11): 792-6, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18007148
3.
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
Diabetes
; 51(7): 2329-33, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12086970
4.
Newborn screening for spinal muscular atrophy: Anticipating an imminent need.
Semin Perinatol
; 39(3): 217-29, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25979781
5.
Using a unified usability framework to dramatically improve the usability of an EMR Module.
AMIA Annu Symp Proc
; 2011: 549-58, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22195110