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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: hennekam rc. 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
Rubinstein-Taybi syndrome in The Netherlands.
Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:17-29. doi: 10.1002/ajmg.1320370604. Am J Med Genet Suppl. 1990. PMID: 2118773
Clinical profile of Angelman syndrome at different ages.
Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP. Buntinx IM, et al. Among authors: hennekam rc. Am J Med Genet. 1995 Mar 27;56(2):176-83. doi: 10.1002/ajmg.1320560213. Am J Med Genet. 1995. PMID: 7625442
Dermal eccrine cylindromatosis.
van Balkom ID, Hennekam RC. van Balkom ID, et al. Among authors: hennekam rc. J Med Genet. 1994 Apr;31(4):321-4. doi: 10.1136/jmg.31.4.321. J Med Genet. 1994. PMID: 8071959 Free PMC article. Review. No abstract available.
EEC syndrome and genitourinary anomalies: an update.
Maas SM, de Jong TP, Buss P, Hennekam RC. Maas SM, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Jun 14;63(3):472-8. doi: 10.1002/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8737655 Review.
593 results