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PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Among authors: hopkin rj. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351
Long-term survival in a patient with del(18)(q12.2q21.1).
Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ. Tinkle BT, et al. Among authors: hopkin rj. Am J Med Genet A. 2003 May 15;119A(1):66-70. doi: 10.1002/ajmg.a.10217. Am J Med Genet A. 2003. PMID: 12707962
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923
Severe cervical scoliosis in the fetus.
Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Prenat Diagn. 2011 Dec;31(12):1198-202. doi: 10.1002/pd.2898. Epub 2011 Oct 26. Prenat Diagn. 2011. PMID: 22031186
Genetic causes of macroglossia: diagnostic approach.
Prada CE, Zarate YA, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Pediatrics. 2012 Feb;129(2):e431-7. doi: 10.1542/peds.2011-1732. Epub 2012 Jan 16. Pediatrics. 2012. PMID: 22250026
203 results