Detalhe da pesquisa
1.
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
Am J Med Genet A
; 149A(6): 1108-15, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19449422
2.
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Eur J Hum Genet
; 14(9): 1009-17, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16773131
3.
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
Eur J Hum Genet
; 12(5): 415-8, 2004 May.
Artigo
Inglês
| MEDLINE | ID: mdl-14970844
4.
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
Am J Med Genet A
; 134(4): 439-42, 2005 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15810003
5.
Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.
Am J Med Genet A
; 118A(3): 229-34, 2003 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-12673652
6.
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
Am J Med Genet A
; 140(14): 1608-13, 2006 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16761289