Detalhe da pesquisa
1.
Development of an LC-MRM-MS-Based Candidate Reference Measurement Procedure for Standardization of Serum Apolipoprotein (a) Tests.
Clin Chem
; 69(3): 251-261, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36644914
2.
Commutability Assessment of Candidate Reference Materials for Lipoprotein(a) by Comparison of a MS-based Candidate Reference Measurement Procedure with Immunoassays.
Clin Chem
; 69(3): 262-272, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36644921
3.
Recommendations for Setting a Criterion for Assessing Commutability of Secondary Calibrator Certified Reference Materials.
Clin Chem
; 69(9): 966-975, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566391
4.
Recommendations for Setting a Criterion and Assessing Commutability of Sample Materials Used in External Quality Assessment/Proficiency Testing Schemes.
Clin Chem
; 69(11): 1227-1237, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725906
5.
External quality assessment of SARS-CoV-2 serology in European expert laboratories, April 2021.
Euro Surveill
; 27(42)2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36268736
6.
Towards an SI-Traceable Reference Measurement System for Seven Serum Apolipoproteins Using Bottom-Up Quantitative Proteomics: Conceptual Approach Enabled by Cross-Disciplinary/Cross-Sector Collaboration.
Clin Chem
; 67(3): 478-489, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331636
7.
Commutability Assessment of Candidate Reference Materials for Pancreatic α-Amylase.
Clin Chem
; 64(8): 1193-1202, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29903873
8.
Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine.
Clin Chem
; 64(9): 1296-1307, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29903874
9.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Ann Neurol
; 71(1): 15-25, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22275249
10.
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
Brain
; 133(Pt 5): 1403-14, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20371507
11.
Faecal immunochemical tests for haemoglobin: Analytical challenges and potential solutions.
Clin Chim Acta
; 517: 60-65, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571484
12.
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Ann Neurol
; 66(3): 415-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19798636
13.
The SCN1A variant database: a novel research and diagnostic tool.
Hum Mutat
; 30(10): E904-20, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19585586
14.
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Brain
; 131(Pt 7): 1831-44, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18577546
15.
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
Hum Mutat
; 27(9): 914-20, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16865694
16.
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Neuromuscul Disord
; 16(1): 19-25, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16373086
17.
Validation of a digital PCR method for quantification of DNA copy number concentrations by using a certified reference material.
Biomol Detect Quantif
; 9: 29-39, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27617230
18.
Genetics of epilepsy syndromes starting in the first year of life.
Neurology
; 72(3): 273-81, 2009 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-19153375
19.
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
Epilepsia
; 49(3): 500-8, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18028407
20.
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.
Hum Genet
; 118(5): 618-25, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16273391