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Page 1
The idic(15) syndrome: expanding the phenotype.
Galizia EC, Palmer R, Waters JJ, Koepp MJ, Hennekam RC, Sisodiya SM. Galizia EC, et al. Among authors: hennekam rc. Am J Med Genet A. 2012 Jun;158A(6):1505-8. doi: 10.1002/ajmg.a.35366. Epub 2012 May 14. Am J Med Genet A. 2012. PMID: 22585586 No abstract available.
Angelman syndrome in adulthood.
Laan LA, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Laan LA, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Dec 18;66(3):356-60. doi: 10.1002/(SICI)1096-8628(19961218)66:3<356::AID-AJMG21>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 9072912
What to call a syndrome.
Hennekam RC. Hennekam RC. Am J Med Genet A. 2007 May 15;143A(10):1021-4. doi: 10.1002/ajmg.a.31674. Am J Med Genet A. 2007. PMID: 17366584 No abstract available.
Nicolaides-Baraitser syndrome: Delineation of the phenotype.
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC. Sousa SB, et al. Among authors: hennekam rc. Am J Med Genet A. 2009 Aug;149A(8):1628-40. doi: 10.1002/ajmg.a.32956. Am J Med Genet A. 2009. PMID: 19606471
Phenotype and natural history in Marshall-Smith syndrome.
Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RC. Shaw AC, et al. Among authors: hennekam rc. Am J Med Genet A. 2010 Nov;152A(11):2714-26. doi: 10.1002/ajmg.a.33709. Am J Med Genet A. 2010. PMID: 20949508
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.
Kasperavičiūtė D, Catarino CB, Chinthapalli K, Clayton LM, Thom M, Martinian L, Cohen H, Adalat S, Bockenhauer D, Pope SA, Lench N, Koltzenburg M, Duncan JS, Hammond P, Hennekam RC, Land JM, Sisodiya SM. Kasperavičiūtė D, et al. Among authors: hennekam rc. PLoS One. 2011;6(8):e23182. doi: 10.1371/journal.pone.0023182. Epub 2011 Aug 17. PLoS One. 2011. PMID: 21858020 Free PMC article.
595 results