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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2007 1
2011 1
2012 2
2013 3
2014 4
2015 2
2016 5
2017 4
2018 2
2019 5
2020 3
2021 0
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28 results
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Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: vanzo r. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Burdick KJ, et al. Among authors: vanzo r. Am J Med Genet A. 2020 Jun;182(6):1400-1406. doi: 10.1002/ajmg.a.61558. Epub 2020 Mar 19. Am J Med Genet A. 2020. PMID: 32190976 Free PMC article.
Autophagy role(s) in response to oncogenes and DNA replication stress.
Vanzo R, Bartkova J, Merchut-Maya JM, Hall A, Bouchal J, Dyrskjøt L, Frankel LB, Gorgoulis V, Maya-Mendoza A, Jäättelä M, Bartek J. Vanzo R, et al. Cell Death Differ. 2020 Mar;27(3):1134-1153. doi: 10.1038/s41418-019-0403-9. Epub 2019 Aug 14. Cell Death Differ. 2020. PMID: 31409894 Free PMC article.
Mosaicism in Stickler syndrome.
Stevenson DA, Vanzo R, Damjanovich K, Hanson H, Muntz H, Hoffman RO, Bayrak-Toydemir P. Stevenson DA, et al. Among authors: vanzo r. Eur J Med Genet. 2012 Jun;55(6-7):418-22. doi: 10.1016/j.ejmg.2012.03.006. Epub 2012 Mar 30. Eur J Med Genet. 2012. PMID: 22522174 Free PMC article.
Disorders of creatine transport and metabolism.
Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M. Longo N, et al. Among authors: vanzo r. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308988
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