Detalhe da pesquisa
1.
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
J Lipid Res
; 53(3): 548-555, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22236406
2.
Dynamics of viral shedding during ancestral or Omicron BA.1 SARS-CoV-2 infection and enhancement of pre-existing immunity during breakthrough infections.
Emerg Microbes Infect
; 11(1): 2423-2432, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36098494
3.
U1 snRNA mis-binding: a new cause of CMT1B.
Neurogenetics
; 11(1): 13-9, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19475438
4.
Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
Clin Chim Acta
; 412(1-2): 203-7, 2011 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20851114
5.
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
Mitochondrion
; 11(1): 223-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20691285
6.
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
Clin Chim Acta
; 411(23-24): 1983-91, 2010 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20800588
7.
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Eur J Med Genet
; 53(5): 261-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20624503
8.
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
Clin Biochem
; 42(9): 892-8, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19318026