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Citation: Cm. Aalfs et al., A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis, HUM MUTAT, 16(1), 2000, pp. 18-22

Authors: Kalff-Suske, M Wild, A Topp, J Wessling, M Jacobsen, EM Bornholdt, D Engel, H Heuer, H Aalfs, CM Ausems, MGEM Barone, R Herzog, A Heutink, P Homfray, T Gillessen-Kaesbach, G Konig, R Kunze, J Meinecke, P Muller, D Rizzo, R Strenge, S Superti-Furga, A Grzeschik, KH

Citation: M. Kalff-suske et al., Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome, HUM MOL GEN, 8(9), 1999, pp. 1769-1777

Authors: Aalfs, CM Hoovers, JMN Wijburg, FA

Citation: Cm. Aalfs et al., Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome, AM J MED G, 86(4), 1999, pp. 398-400

Authors: Bijlsma, EK Aalfs, CM Sluijter, S Luttikhuis, MEMO Trembath, RC Hoovers, JMN Hennekam, RCM

Citation: Ek. Bijlsma et al., Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype, J MED GENET, 36(8), 1999, pp. 604-609

Authors: Knight, SW Heiss, NS Vulliamy, TJ Aalfs, CM McMahon, C Richmond, P Jones, A Hennekam, RCM Poustka, A Mason, PJ Dokal, I

Citation: Sw. Knight et al., Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1, BR J HAEM, 107(2), 1999, pp. 335-339