Detalhe da pesquisa
1.
Mosaic structural variation in children with developmental disorders.
Hum Mol Genet
; 24(10): 2733-45, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634561
2.
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Am J Hum Genet
; 91(3): 489-501, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22939634
3.
Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.
Am J Med Genet A
; 167A(8): 1916-20, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900906
4.
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?
Eur J Med Genet
; 56(4): 216-21, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23357683
5.
A case of mosaic trisomy 19q12-q13.2 with high BMI, macrocephaly, and speech delay: does USF2 determine size in the 19q phenotypes?
Clin Dysmorphol
; 21(1): 33-36, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22107929
6.
Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.
Clin Dysmorphol
; 21(4): 196-199, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22772582