Detalhe da pesquisa
1.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Clin Chem
; 63(2): 503-512, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27974384
2.
Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing.
Clin Chem
; 61(1): 154-62, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25274553
3.
Genome sequencing as a generic diagnostic strategy for rare disease.
Genome Med
; 16(1): 32, 2024 Feb 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38355605
4.
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.
Clin Chem
; 56(4): 593-602, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20167696
5.
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.
J Mol Diagn
; 11(6): 514-23, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19779133