Hennekam RC - Search Results

1

A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.

Van den Boogaard MJ, De Pater J, Hennekam RC. Van den Boogaard MJ, et al. Among authors: hennekam rc. Genet Couns. 1991;2(2):83-91. Genet Couns. 1991. PMID: 1781959

2

Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.

van Balkom ID, Hagendoorn J, De Pater JM, Hennekam RC. van Balkom ID, et al. Among authors: hennekam rc. Genet Couns. 1992;3(2):83-9. Genet Couns. 1992. PMID: 1642815 Review.

3

A cephalometric study in Rubinstein-Taybi syndrome.

Hennekam RC, Van den Boogaard MJ, Van Doorne JM. Hennekam RC, et al. J Craniofac Genet Dev Biol. 1991 Jan-Mar;11(1):33-40. J Craniofac Genet Dev Biol. 1991. PMID: 2061404

4

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

5

Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome.

Hennekam RC, Van Den Boogaard MJ, Dijkstra PF, Van de Kamp JJ. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:48-50. doi: 10.1002/ajmg.1320370608. Am J Med Genet Suppl. 1990. PMID: 2118778

6

Hydrops fetalis associated with red cell pyruvate kinase deficiency.

Hennekam RC, Beemer FA, Cats BP, Jansen G, Staal GE. Hennekam RC, et al. Genet Couns. 1990;1(1):75-9. Genet Couns. 1990. PMID: 2222926

7

Autosomal dominant craniosynostosis of the sutura metopica.

Hennekam RC, Van den Boogaard MJ. Hennekam RC, et al. Clin Genet. 1990 Nov;38(5):374-7. doi: 10.1111/j.1399-0004.1990.tb03598.x. Clin Genet. 1990. PMID: 2282717

8

A male carrier for Duchenne muscular dystrophy.

Hennekam RC, Veenema H, Bakker E, Jennekens FG, Te Velde ER, de Pater J. Hennekam RC, et al. Am J Hum Genet. 1989 Apr;44(4):591-2. Am J Hum Genet. 1989. PMID: 2929600 Free PMC article. No abstract available.

9

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P. Hennekam RC, et al. Clin Dysmorphol. 1993 Oct;2(4):283-300. Clin Dysmorphol. 1993. PMID: 7508316 Review.

10

Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.

Bouwens-Rombouts AG, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG. Bouwens-Rombouts AG, et al. Among authors: hennekam rc. Hum Genet. 1993 Jun;91(5):451-4. doi: 10.1007/BF00217770. Hum Genet. 1993. PMID: 8314557

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