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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Veneruso, Iolanda, Ranieri, Annaluisa, Falcone, Noemi, Tripodi, Lorella, Scarano, Carmela, La Monica, Ilaria, Pastore, Lucio, Lombardo, Barbara, D’Argenio, Valeria
التنسيق: Online مقال نص
اللغة:English
منشور في: MDPI 2023
الموضوعات:
Case Report
الوصول للمادة أونلاين:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454493/
https://www.ncbi.nlm.nih.gov/pubmed/37628702
http://dx.doi.org/10.3390/genes14081651

الانترنت

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

مواد مشابهة