Authors: Doffinger, R Smahi, A Bessia, C Geissmann, F Feinberg, J Durandy, A Bodemer, C Kenwrick, S Dupuis-Girod, S Blanche, S Wood, P Rabia, SH Headon, DJ Overbeek, PA Le Deist, F Holland, SM Belani, K Kumararatne, DS Fischer, A Shapiro, R Conley, ME Reimund, E Kalhoff, H Abinun, M Munnich, A Israel, A Courtois, G Casanova, JL

Citation: R. Doffinger et al., X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling, NAT GENET, 27(3), 2001, pp. 277-285

Authors: Rutsch, F Vaingankar, S Johnson, K Goldfine, I Maddux, B Schauerte, P Kalhoff, H Sano, K Boisvert, WA Superti-Furga, A Terkeltaub, R

Citation: F. Rutsch et al., PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathicinfantile arterial calcification, AM J PATH, 158(2), 2001, pp. 543-554

Authors: Rutsch, F Schauerte, P Kalhoff, H Petrarulo, M August, C Diekmann, L

Citation: F. Rutsch et al., Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification, ACT PAEDIAT, 89(10), 2000, pp. 1265-1269

Authors: Koling, S Kalhoff, H Schauerte, P Lehnert, W Diekmann, L

Citation: S. Koling et al., 3-hydroxy-3-methylglutaric aciduria (Case report of two turkish sisters with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency), KLIN PADIAT, 212(3), 2000, pp. 113-116

Authors: Fechtrup, B Kalhoff, H Diekmann, L Fritz, B

Citation: B. Fechtrup et al., Trisomy of the short arm of chromosome 10p; case report of a female patient with de nova duplication 10p11.2-15, KLIN PADIAT, 212(1), 2000, pp. 35-40

Authors: Schweizer, P Kalhoff, H Horneff, G Wahn, V Diekmann, L

Citation: P. Schweizer et al., Polysaccharide specific humoral immunodeficiency and ectodermal dysplasia - Case report of a male patient with two affected brothers, KLIN PADIAT, 211(6), 1999, pp. 459-461