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Implementation and Experience of an Alternative QF-PCR and MLPA Diagnostic Strategy to Detect Chromosomal Abnormalities in Fetal and Neonatal Pathology Samples.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 6, p. 460, doi. 10.2350/11-01-0971-OA.1
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- Article
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.
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- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 432, doi. 10.1002/pd.6476
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- Article
Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.
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- Genetics Research, 2020, p. 1, doi. 10.1017/S0016672320000087
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- Article
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.
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- Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000119
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- Article
A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142729
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- Article