Detalhe da pesquisa
1.
GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome.
Pflugers Arch
; 476(2): 229-242, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38036776
2.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942433
3.
Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort.
Acta Neuropathol
; 128(1): 137-49, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24791927
4.
Detection of Aspergillus DNA by a nested PCR assay is superior to blood culture in an experimental murine model of invasive aspergillosis.
J Med Microbiol
; 53(Pt 8): 803-806, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15272069
5.
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
Clin Dysmorphol
; 23(1): 1-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24300288
6.
Problems in detecting mosaic DNA methylation in Angelman syndrome.
Eur J Hum Genet
; 11(12): 913-5, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14523374
7.
Clinical evaluation of a polymerase chain reaction assay to detect Aspergillus species in bronchoalveolar lavage samples of neutropenic patients.
Br J Haematol
; 116(4): 803-11, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11886384
8.
SigB, an alternative sigma factor of the myxobacterium Stigmatella aurantiaca, is synthesized during development and heat shock.
Microbiology (Reading)
; 147(Pt 8): 2265-2273, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11496003
9.
Development of a LightCycler PCR assay for detection and quantification of Aspergillus fumigatus DNA in clinical samples from neutropenic patients.
J Clin Microbiol
; 41(5): 1811-8, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12734210