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Urv TK, Parisi MA. Urv TK, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):5-6. doi: 10.1002/ajmg.c.32039. Am J Med Genet C Semin Med Genet. 2023. PMID: 36960570 No abstract available.
The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan.
Bardhan S, Li H, Tarver E, Schramm C, Brown M, Garcia L, Schwartz B, Mazzucco A, Natarajan N, Walsh E, Ryan L, Pearson G, Parisi MA. Bardhan S, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2024 Mar;196(1):e32081. doi: 10.1002/ajmg.c.32081. Epub 2024 Jan 10. Am J Med Genet C Semin Med Genet. 2024. PMID: 38197535 Review.
Gene-targeted therapies: Overview and implications.
Brooks PJ, Urv TK, Parisi MA. Brooks PJ, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):13-18. doi: 10.1002/ajmg.c.32033. Epub 2023 Mar 2. Am J Med Genet C Semin Med Genet. 2023. PMID: 36864710
Congenital Hypothyroidism: Screening and Management.
Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE. Rose SR, et al. Pediatrics. 2023 Jan 1;151(1):e2022060419. doi: 10.1542/peds.2022-060419. Pediatrics. 2023. PMID: 36827523
Congenital Hypothyroidism: Screening and Management.
Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE. Rose SR, et al. Pediatrics. 2023 Jan 1;151(1):e2022060420. doi: 10.1542/peds.2022-060420. Pediatrics. 2023. PMID: 36827521
Are we prepared to deliver gene-targeted therapies for rare diseases?
Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, Urv TK. Yu TW, et al. Among authors: parisi ma. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):7-12. doi: 10.1002/ajmg.c.32029. Epub 2023 Jan 24. Am J Med Genet C Semin Med Genet. 2023. PMID: 36691939
84 results