Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients Ralf TriepelsJan SmeitinkLambert van den Heuvel Original Investigation Pages: 385 - 391
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH Vladimir BezrookoveKerstin HanssonCarla Rosenberg Original Investigation Pages: 392 - 398
High frequency hearing loss correlated with mutations in the GJB2 gene Stephen A WilcoxKerryn SaundersHans-Henrik M. Dahl Original Investigation Pages: 399 - 405
Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene Hannah JudsonNadine van RoyDavid T. Bonthron Original Investigation Pages: 406 - 413
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency Selma F. WitchelRhonda SmithDurval Damiani Original Investigation Pages: 414 - 419
Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women Barbara J. NicklasRobert E. FerrellAndrew P. Goldberg Original Investigation Pages: 420 - 424
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene Frederik HesRichard ZewaldRob van der Luijt Original Investigation Pages: 425 - 431
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases Murray HargraveKristy JamesPeter Koopman Original Investigation Pages: 432 - 439
Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association of a T924C polymorphism in the thromboxane A2 receptor gene Motoko UnokiSachiyo FurutaYusuke Nakamura Original Investigation Pages: 440 - 446
Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease Donald J. LehmannZsuzsanna NagyA. David Smith Original Investigation Pages: 447 - 452
Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia Roberto ColomboAnna Carobene Short Report Pages: 455 - 458