Detalhe da pesquisa
1.
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
Am J Med Genet A
; 158A(4): 894-900, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22419357
2.
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
Am J Clin Pathol
; 142(2): 248-53, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25015868
3.
Genotype-phenotype correlation in 13q13.3-q21.3 deletion.
Eur J Med Genet
; 54(5): e489-94, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21741501
4.
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Eur J Hum Genet
; 19(9): 959-64, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21522184