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Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M, Hakim A, Konkwo C, Deaton AM, Ward LD; Alnylam Human Genetics; Silveira MG, Assis DN, Liapakis A, Jaffe A, Jiang ZG, Curry MP, Lai M, Cho MH, Dykas D, Bale A, Mistry PK, Vilarinho S. Zheng M, et al. Among authors: vilarinho s. EBioMedicine. 2023 Sep;95:104747. doi: 10.1016/j.ebiom.2023.104747. Epub 2023 Aug 9. EBioMedicine. 2023. PMID: 37566928 Free PMC article.
Neonatal cholestasis: an uncommon presentation of hyperargininemia.
Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Gomes Martins E, et al. Among authors: vilarinho s, vilarinho l. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S503-6. doi: 10.1007/s10545-010-9263-7. Epub 2011 Jan 13. J Inherit Metab Dis. 2010. PMID: 21229317
Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Hakim A, et al. Among authors: vilarinho s. J Hepatol. 2019 Jun;70(6):1214-1221. doi: 10.1016/j.jhep.2019.01.036. Epub 2019 Apr 15. J Hepatol. 2019. PMID: 31000363 Free PMC article.
Exome Sequencing in Clinical Hepatology.
Vilarinho S, Mistry PK. Vilarinho S, et al. Hepatology. 2019 Dec;70(6):2185-2192. doi: 10.1002/hep.30826. Hepatology. 2019. PMID: 31222768 Free PMC article. Review.
58 results