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American Journal of Nephrology|January 1, 1996
Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failureA Van Loo, R Vanholder, K Madsen, et al.
American Journal of Physiology. Heart and Circulatory Physiology|January 10, 2006
Aortic reflection coefficients and their association with global indexes of wave reflection in healthy controls and patients with Marfan's syndromeP Segers, J De Backer, D Devos, et al.
American Journal of Medical Genetics|November 7, 1998
Correlation of linkage data with phenotype in eight families with Stickler syndromeD J Wilkin, G R Mortier, C L Johnson, et al.
Case Reports in Infectious Diseases|May 16, 2022
Two Cases of Post-Traumatic Mucormycosis due to Mucor circinelloides: Salvage Therapy with a Combination of Adjunctive TherapiesA De Paepe, K Dams, D Robert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2001
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicingL M Messiaen, T Callens, K J Roux, et al.
Genes, Chromosomes & Cancer|February 15, 2001
Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemiaH Van Limbergen, H B Beverloo, E van Drunen, et al.
Journal of Medical Genetics|April 4, 2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderG R Mortier, M Weis, L Nuytinck, et al.
Genes, Chromosomes & Cancer|September 17, 1998
Genetic heterogeneity of neuroblastoma studied by comparative genomic hybridizationJ Vandesompele, N Van Roy, M Van Gele, et al.
Nature Genetics|June 3, 2000
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticumO Le Saux, Z Urban, C Tschuch, et al.
British Journal of Cancer|March 25, 2000
Mutation analysis of P73 and TP53 in Merkel cell carcinomaM Van Gele, M Kaghad, J H Leonard, et al.
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