Detalhe da pesquisa
1.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Am J Med Genet A
; 161A(8): 1833-52, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23813913
2.
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
Am J Med Genet A
; 146A(3): 354-60, 2008 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18203180
3.
Fluorescence in situ hybridization of uncultured lymphocytes from cystic hygroma fluid: a potential approach for rapid prenatal diagnosis.
Prenat Diagn
; 22(1): 81-2, 2002 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-11810661