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1.
Measurable residual disease detection by high-throughput sequencing improves risk stratification for pediatric B-ALL.
Blood
; 131(12): 1350-1359, 2018 03 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-29284596
2.
Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.
Genet Med
; 14(1): 95-100, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22237437
3.
The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer.
J Assist Reprod Genet
; 29(7): 609-14, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22527905
4.
Characterisation of T cell receptor repertoires in coeliac disease.
J Clin Pathol
; 2022 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36522177
5.
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Genet Med
; 13(1): 39-45, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21116185
6.
Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
Genet Med
; 13(2): 166-72, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21068670
7.
Immunoglobulin somatic hypermutation has clinical impact in DLBCL and potential implications for immune checkpoint blockade and neoantigen-based immunotherapies.
J Immunother Cancer
; 7(1): 272, 2019 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-31640780
8.
Development of a web-based query tool for quality assurance of clinical molecular genetic test results.
J Mol Diagn
; 9(1): 95-8, 2007 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17251341
9.
Mutation Yield of a 34-Gene Solid Tumor Panel in Community-Based Tumor Samples.
Mol Diagn Ther
; 20(3): 241-53, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27084556
10.
Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.
Genet Med
; 9(1): 46-51, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17224689
11.
Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.
Genet Med
; 7(4): 278-82, 2005 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15834246
12.
Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.
Genet Med
; 6(3): 145-52, 2004.
Artículo
en Inglés
| MEDLINE | ID: mdl-15354333
13.
Cystic fibrosis screening: lessons learned from the first 320,000 patients.
Genet Med
; 6(3): 136-40, 2004.
Artículo
en Inglés
| MEDLINE | ID: mdl-15354331
14.
Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.
Genet Med
; 4(4): 289-96, 2002.
Artículo
en Inglés
| MEDLINE | ID: mdl-12172395
15.
Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting.
Clin Chem
; 50(5): 836-45, 2004 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15010427
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