1. 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 Triepels
   • Jan Smeitink
   • Lambert van den Heuvel

   Original Investigation Pages: 385 - 391

2. Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH

   • Vladimir Bezrookove
   • Kerstin Hansson
   • Carla Rosenberg

   Original Investigation Pages: 392 - 398

3. High frequency hearing loss correlated with mutations in the GJB2 gene

   • Stephen A Wilcox
   • Kerryn Saunders
   • Hans-Henrik M. Dahl

   Original Investigation Pages: 399 - 405

4. Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene

   • Hannah Judson
   • Nadine van Roy
   • David T. Bonthron

   Original Investigation Pages: 406 - 413

5. CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency

   • Selma F. Witchel
   • Rhonda Smith
   • Durval Damiani

   Original Investigation Pages: 414 - 419

6. Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women

   • Barbara J. Nicklas
   • Robert E. Ferrell
   • Andrew P. Goldberg

   Original Investigation Pages: 420 - 424

7. Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

   • Frederik Hes
   • Richard Zewald
   • Rob van der Luijt

   Original Investigation Pages: 425 - 431

8. Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

   • Murray Hargrave
   • Kristy James
   • Peter Koopman

   Original Investigation Pages: 432 - 439

9. 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 Unoki
   • Sachiyo Furuta
   • Yusuke Nakamura

   Original Investigation Pages: 440 - 446

10. Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease

    • Donald J. Lehmann
    • Zsuzsanna Nagy
    • A. David Smith

    Original Investigation Pages: 447 - 452

11. Multiple origins of Tibetan Y chromosomes

    • Yaping Qian
    • Binzhi Qian
    • Li Jin

    Short Report Pages: 453 - 454

12. Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia

    • Roberto Colombo
    • Anna Carobene

    Short Report Pages: 455 - 458