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Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47. Ebrahimi-Fakhari D, et al. Among authors: pier db. Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193663
Case 33-2022: An 11-Year-Old Girl with Redness of the Eyes.
Cohen EM, Sobrin L, Figueiro Longo MG, Pier DB, Brown DR, Stagner AM. Cohen EM, et al. Among authors: pier db. N Engl J Med. 2022 Oct 27;387(17):1598-1607. doi: 10.1056/NEJMcpc2201235. N Engl J Med. 2022. PMID: 36300978 No abstract available.
16 results