Found: 16
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Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1094
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- Article
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
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- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0459-8
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- Article
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.
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- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0446-0
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- Article
Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
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- Clinical Chemistry, 2016, v. 62, n. 6, p. 848, doi. 10.1373/clinchem.2015.252502
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- Article
Antagonistic Control of Lysosomal Fusion by Rab14 and the Lyst-Related Protein LvsB.
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- Traffic, 2013, v. 14, n. 5, p. 599, doi. 10.1111/tra.12058
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- Article
The BEACH Protein LvsB Is Localized on Lysosomes and Postlysosomes and Limits Their Fusion with Early Endosomes.
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- Traffic, 2007, v. 8, n. 6, p. 774, doi. 10.1111/j.1600-0854.2007.00567.x
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- Article
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
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- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0171319
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- Article
The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis.
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- Cellular & Molecular Life Sciences, 2014, v. 71, n. 3, p. 517, doi. 10.1007/s00018-013-1401-6
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- Article
Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.
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- Prenatal Diagnosis, 2013, v. 33, n. 7, p. 650, doi. 10.1002/pd.4140
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- Article
MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 996, doi. 10.1002/pd.3947
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- Article
Molecular profile and clinical features of patients with gliomas using a broad targeted next generation-sequencing panel.
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- Oncology Letters, 2023, v. 25, n. 1, p. N.PAG
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- Article
The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis.
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- Genes, 2014, v. 5, n. 2, p. 310, doi. 10.3390/genes5020310
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- Article
MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.
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- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199010
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- Article
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11834, doi. 10.3390/ijms241411834
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- Article
Non-invasive prenatal screening tests – update 2022.
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- Journal of Laboratory Medicine, 2022, v. 46, n. 4, p. 311, doi. 10.1515/labmed-2022-0023
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- Article
Non-invasive prenatal screening tests -- update 2022.
- Published in:
- Journal of Laboratory Medicine, 2022, v. 46, n. 4, p. 311, doi. 10.1515/labmed-2022-0023
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- Publication type:
- Article