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Results: 1-7 |
Results: 7

Authors: McGrath, JA Duijf, PHG Doetsch, V Irvine, AD de Waal, R Vanmolkot, KRJ Wessagowit, V Kelly, A Atherton, DJ Griffiths, WAD Orlow, SJ van Haeringen, A Ausems, MGEM Yang, A McKeon, F Bamshad, MA Brunner, HG Hamel, BCJ van Bokhoven, H
Citation: Ja. Mcgrath et al., Hay-Wells syndrome is caused by heterozygous missense mutations in the SAMdomain of p63, HUM MOL GEN, 10(3), 2001, pp. 221-229

Authors: Maat-Kievit, A Vegter-van der Vlis, M Zoeteweij, M Losekoot, M van Haeringen, A Roos, R
Citation: A. Maat-kievit et al., Paradox of a better test for Huntington's disease, J NE NE PSY, 69(5), 2000, pp. 579-583

Authors: Petrij, F Dauwerse, HG Blough, RI Giles, RH van der Smagt, JJ Wallerstein, R Maaswinkel-Mooy, PD van Karnebeek, CD van Ommen, GJB van Haeringen, A Rubinstein, JH Saal, HM Hennekam, RCM Peters, DJM Breuning, MH
Citation: F. Petrij et al., Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations, J MED GENET, 37(3), 2000, pp. 168-176

Authors: Laan, LAEM van Haeringen, A Brouwer, OF
Citation: Laem. Laan et al., Angelman syndrome: a review of clinical and genetic aspects, CLIN NEUROL, 101(3), 1999, pp. 161-170

Authors: Maat-Kievit, A Vegter-van der Vlis, M Zoeteweij, M Losekoot, M van Haeringen, A Kanhai, H Roos, R
Citation: A. Maat-kievit et al., Experience in prenatal testing for Huntington's disease in the Netherlands: Procedures, results and guidelines (1987-1997), PRENAT DIAG, 19(5), 1999, pp. 450-457

Authors: Maat-Kievit, A Vlis, MV Zoeteweij, M Losekoot, M van Haeringen, A Roos, RAC
Citation: A. Maat-kievit et al., Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997), AM J MED G, 88(6), 1999, pp. 662-668

Authors: Hendriks, YMC Laan, LAEM Vielvoye, GJ van Haeringen, A
Citation: Ymc. Hendriks et al., Bilateral sensorineural deafness, partial agenesis of the corpus callosum,and arachnoid cysts in two sisters, AM J MED G, 86(2), 1999, pp. 183-186
Risultati: 1-7 |