Detalhe da pesquisa
1.
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Am J Hum Genet
; 84(1): 44-51, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118815
2.
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
Am J Hum Genet
; 77(5): 741-53, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16252235
3.
Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing.
J Biol Chem
; 280(35): 31325-32, 2005 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-16000300