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A new line method; A direct test in spinal muscular atrophy screening for DBS.
Kubar A, Temel SG, Beken S, Onder G, Hatirnaz O, Korkmaz A, Alanay Y, Ozbek U, Sag SO, Ergoren MC, Kubar E, Sonmezalp CZ, Doğan O. Kubar A, et al. Among authors: temel sg. Mol Genet Genomic Med. 2023 Dec;11(12):e2270. doi: 10.1002/mgg3.2270. Epub 2023 Aug 23. Mol Genet Genomic Med. 2023. PMID: 37614112 Free PMC article.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Among authors: temel sg. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
76 results