Detalhe da pesquisa
1.
Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
J Mol Diagn
; 23(6): 753-764, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798739
2.
Analytical Validation of a Highly Sensitive, Multiplexed Chronic Myeloid Leukemia Monitoring System Targeting BCR-ABL1 RNA.
J Mol Diagn
; 21(4): 718-733, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026597
3.
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
BMC Med Genet
; 7: 69, 2006 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-16887033
4.
Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms.
J Mol Diagn
; 6(4): 348-55, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15507674
5.
A multiplex technology platform for the rapid analysis of clinically actionable genetic alterations and validation for BRAF p.V600E detection in 1549 cytologic and histologic specimens.
Arch Pathol Lab Med
; 138(3): 371-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23808402
6.
Molecular testing for oncogenic gene mutations in thyroid lesions: a case-control validation study in 413 postsurgical specimens.
Hum Pathol
; 45(7): 1339-47, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24830619
7.
An optimized technology platform for the rapid multiplex molecular analysis of genetic alterations associated with leukemia.
Cancer Genet
; 205(10): 488-500, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23026076
8.
Sensitive multiplex detection of KRAS codons 12 and 13 mutations in paraffin-embedded tissue specimens.
J Clin Pathol
; 64(1): 30-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21030527
9.
An optimized isolation and labeling platform for accurate microRNA expression profiling.
RNA
; 11(9): 1461-70, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16043497