The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data

Expanded carrier screening (ECS) means a comprehensive genetic analysis to evaluate an individual’s carrier status. ECS is becoming more frequently used, thanks to the availability of techniques such as next generation sequencing (NGS) and array comparative genomic hybridization (aCGH), allowing for...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Veneruso, Iolanda, Ranieri, Annaluisa, Falcone, Noemi, Tripodi, Lorella, Scarano, Carmela, La Monica, Ilaria, Pastore, Lucio, Lombardo, Barbara, D’Argenio, Valeria
स्वरूप: Online लेख मूलपाठ
भाषा:English
प्रकाशित: MDPI 2023
विषय:
Case Report
ऑनलाइन पहुंच:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454493/
https://www.ncbi.nlm.nih.gov/pubmed/37628702
http://dx.doi.org/10.3390/genes14081651

इंटरनेट

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454493/
https://www.ncbi.nlm.nih.gov/pubmed/37628702
http://dx.doi.org/10.3390/genes14081651

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