Found: 17
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External quality assessment of SARS-CoV-2 serology in European expert laboratories, April 2021.
- Published in:
- Eurosurveillance (15607917), 2022, v. 27, n. 42, p. 30, doi. 10.2807/1560-7917.ES.2022.27.42.2101057
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- Publication type:
- Article
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 500, doi. 10.1111/j.1528-1167.2007.01415.x
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- Publication type:
- Article
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 618, doi. 10.1007/s00439-005-0077-x
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- Article
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1403, doi. 10.1093/brain/awq057
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- Publication type:
- Article
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 7, p. 1831, doi. 10.1093/brain/awn113
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- Publication type:
- Article
Recommendations for Setting a Criterion and Assessing Commutability of Sample Materials Used in External Quality Assessment/Proficiency Testing Schemes.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 11, p. 1227, doi. 10.1093/clinchem/hvad135
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- Publication type:
- Article
Recommendations for Setting a Criterion for Assessing Commutability of Secondary Calibrator Certified Reference Materials.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 9, p. 966, doi. 10.1093/clinchem/hvad104
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- Publication type:
- Article
Commutability Assessment of Candidate Reference Materials for Lipoprotein(a) by Comparison of a MS-based Candidate Reference Measurement Procedure with Immunoassays.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 3, p. 262, doi. 10.1093/clinchem/hvac203
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- Publication type:
- Article
Development of an LC-MRM-MS-Based Candidate Reference Measurement Procedure for Standardization of Serum Apolipoprotein (a) Tests.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 3, p. 251, doi. 10.1093/clinchem/hvac204
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- Publication type:
- Article
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.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 3, p. 478, doi. 10.1093/clinchem/hvaa239
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- Publication type:
- Article
Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 9, p. 1296, doi. 10.1373/clinchem.2017.285478
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- Publication type:
- Article
Commutability Assessment of Candidate Reference Materials for Pancreatic α-Amylase.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 8, p. 1193, doi. 10.1373/clinchem.2018.289744
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- Publication type:
- Article
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 15, doi. 10.1002/ana.22644
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- Publication type:
- Article
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 3, p. 415, doi. 10.1002/ana.21724
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- Publication type:
- Article
The SCN1A variant database: a novel research and diagnostic tool.
- Published in:
- 2009
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- Publication type:
- Other
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
- Published in:
- Human Mutation, 2006, v. 27, n. 9, p. 914, doi. 10.1002/humu.20350
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- Publication type:
- Article
Comparison and commutability study among four faecal immunochemical tests (FIT) systems.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 1, p. 50, doi. 10.1515/cclm-2023-0278
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- Publication type:
- Article