Detalhe da pesquisa
1.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
2.
Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases.
Prenat Diagn
; 32(9): 909-11, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22674778
3.
Implementation and experience of an alternative QF-PCR and MLPA diagnostic strategy to detect chromosomal abnormalities in fetal and neonatal pathology samples.
Pediatr Dev Pathol
; 14(6): 460-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21875355
4.
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.
J Med Case Rep
; 2: 355, 2008 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19019217