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Results: 1-8 |
Results: 8
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype
Authors: Tan-Sindhunata, G Castedo, S Leegte, B Mulder, I van der Veen, AYV van der Hout, AHV Wiersma, TJ van Essen, AJ
Citation: G. Tan-sindhunata et al., Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype, AM J MED G, 92(2), 2000, pp. 147-152
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations
Authors: Nelen, MR Kremer, H Konings, IBM Schoute, F van Essen, AJ Koch, R Woods, CG Fryns, JP Hamel, B Hoefsloot, LH Peeters, EAJ Padberg, GW
Citation: Mr. Nelen et al., Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations, EUR J HUM G, 7(3), 1999, pp. 267-273
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy
Authors: Hoogerwaard, EM van der Wouw, PA Wilde, AAM Bakker, E Ippel, PF Oosterwijk, JC Majoor-Krakauer, DF van Essen, AJ Leschot, NJ de Visser, M
Citation: Em. Hoogerwaard et al., Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy, NEUROMUSC D, 9(5), 1999, pp. 347-351
Perlman syndrome: Four additional cases and review
Authors: Henneveld, HT van Lingen, RA Hamel, BCJ Stolte-Dijkstra, I van Essen, AJ
Citation: Ht. Henneveld et al., Perlman syndrome: Four additional cases and review, AM J MED G, 86(5), 1999, pp. 439-446
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22
Authors: Verheij, JBGM Bouman, K van Lingen, RA Campagne, JGV Leegte, B van der Veen, AY Hofstra, RMW Buys, CHCM van Essen, AJ
Citation: Jbgm. Verheij et al., Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22, AM J MED G, 86(2), 1999, pp. 168-173
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
Authors: Celli, J Duijf, P Hamel, BCJ Bamshad, M Kramer, B Smits, APT Newbury-Ecob, R Hennekam, RCM Van Buggenhout, G van Haeringen, B Woods, CG van Essen, AJ de Waal, R Vriend, G Haber, DA Yang, A McKeon, F Brunner, HG van Bokhoven, H
Citation: J. Celli et al., Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome, CELL, 99(2), 1999, pp. 143-153
A Hirschsprung disease locus at 22q11?
Authors: Kerstjens-Frederikse, WS Hofstra, RMW van Essen, AJ Meijers, JHC Buys, CHCM
Citation: Ws. Kerstjens-frederikse et al., A Hirschsprung disease locus at 22q11?, J MED GENET, 36(3), 1999, pp. 221-224
High rate of mosaicism in tuberous sclerosis complex
Authors: Verhoef, S Bakker, L Tempelaars, AMP Hesseling-Janssen, ALW Mazurczak, T Jozwiak, S Fois, A Bartalini, G Zonnenberg, BA van Essen, AJ Lindhout, D Halley, DJJ van den Ouweland, AMW
Citation: S. Verhoef et al., High rate of mosaicism in tuberous sclerosis complex, AM J HU GEN, 64(6), 1999, pp. 1632-1637
Risultati: 1-8 |