Detalhe da pesquisa
1.
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Mol Genet Metab
; 121(1): 28-34, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28391974
2.
Clinical and genetic study of 46 Italian patients with primary lymphedema.
Lymphology
; 45(1): 3-12, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22768468
3.
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.
Clin Genet
; 73(4): 346-52, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18279436
4.
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
Dig Liver Dis
; 41(9): 671-5, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19261551
5.
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
Dig Liver Dis
; 41(11): 817-22, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19467940