Detalhe da pesquisa
1.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683120
2.
COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.
Psychiatry Res
; 178(2): 433-6, 2010 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20488547
3.
Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome.
Psychiatry Res
; 181(1): 1-8, 2010 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19962860
4.
A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome.
Am J Med Genet
; 108(3): 205-8, 2002 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11891686
5.
Vasomotor instability in neonates with chromosome 22q11 deletion syndrome.
Am J Med Genet A
; 121A(3): 231-4, 2003 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12923863
6.
Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome.
Neuroimage
; 21(4): 1399-406, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15050565