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Page 1
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: buono s. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
Prader-Willi Syndrome with Angelman Syndrome in the Offspring.
Greco D, Vetri L, Ragusa L, Vinci M, Gloria A, Occhipinti P, Costanzo AA, Quatrosi G, Roccella M, Buono S, Romano C. Greco D, et al. Among authors: buono s. Medicina (Kaunas). 2021 May 8;57(5):460. doi: 10.3390/medicina57050460. Medicina (Kaunas). 2021. PMID: 34066798 Free PMC article.
45 results