Detalhe da pesquisa
1.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet
; 136(3): 307-320, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120103
2.
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Int J Mol Sci
; 15(6): 10350-64, 2014 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24918291
3.
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
J Lipid Res
; 53(10): 2046-2056, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847177
4.
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Biomed Res Int
; 2016: 8742939, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26925417