Amplicon sequencing-based carrier screening for 170 monogenic disorders among children with abnormal LC-MS/MS results
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference13 articles.
1. Compendium of causative genes and their encoded proteins forcommon monogenic disorders;Apgar;Protein Sci.,2022
2. The revolution in human monogenic disease mapping;Duncan;Genes (Basel),2014
3. A systematic review and meta-analysis of gene therapy with hematopoietic stem and progenitor cells for monogenic disorders;Tucci;Nat. Commun.,2022
4. Current updates on expanded carrier screening: new insights in the omics era;Veneruso;Medicina (Kaunas),2022
5. Precision medicine of monogenic disorders: lessons learned from the Saudi human genome;Abedalthagafi;Front Biosci (Landmark Ed),2019
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