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Cornelia de Lange Syndrome.
Deardorff MA, Noon SE, Krantz ID. Deardorff MA, et al. Among authors: noon se. 2005 Sep 16 [updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Sep 16 [updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301283 Free Books & Documents. Review.
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Among authors: noon se. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707
Dr. Laird G. Jackson Festschrift.
Noon SE, Deardorff MA, Krantz ID. Noon SE, et al. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):72-5. doi: 10.1002/ajmg.c.31499. Epub 2016 May 5. Am J Med Genet C Semin Med Genet. 2016. PMID: 27148798 No abstract available.
Characterization of limb differences in children with Cornelia de Lange Syndrome.
Mehta D, Vergano SA, Deardorff M, Aggarwal S, Barot A, Johnson DM, Miller NF, Noon SE, Kaur M, Jackson L, Krantz ID. Mehta D, et al. Among authors: noon se. Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):155-62. doi: 10.1002/ajmg.c.31498. Epub 2016 Apr 27. Am J Med Genet C Semin Med Genet. 2016. PMID: 27120260
17 results