Detalhe da pesquisa
1.
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Am J Med Genet A
; 173(11): 3070-3074, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28898547
2.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat
; 34(10): 1415-23, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23878096
3.
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.
Am J Med Genet A
; 149A(3): 322-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19206155