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1.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Nature
; 485(7397): 237-41, 2012 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-22495306
2.
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
PLoS Genet
; 11(1): e1004852, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25621974
3.
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
Cell Rep
; 9(1): 16-23, 2014 Oct 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-25284784
4.
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron
; 70(5): 863-85, 2011 Jun 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-21658581
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