1. Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

   • Iêda M. Orioli
   • Eduardo E. Castilla
   • Maximilian Muenke

   Original Investigation 12 February 2014 Pages: 1 - 6

2. Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene

   • Rosa Martínez-Arias
   • Eva Mateu
   • Francesc Calafell

   Original Investigation 12 February 2014 Pages: 7 - 10

3. Population-based risk estimates of Wilms tumor in sporadic aniridia

   • Karen Grønskov
   • Jørgen H. Olsen
   • Thomas Rosenberg

   Original Investigation 12 February 2014 Pages: 11 - 18

4. Genetic basis of mitochondrial HMG-CoA synthase deficiency

   • Rosa Aledo
   • Johannes Zschocke
   • Fausto G. Hegardt

   Original Investigation 12 February 2014 Pages: 19 - 23

5. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

   • Isaura Ribeiro
   • Ana Marcão
   • Gilles Millat

   Original Investigation 12 February 2014 Pages: 24 - 32

6. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families

   • Michael D. Brown
   • Sergei Zhadanov
   • Douglas C. Wallace

   Original Investigation 12 February 2014 Pages: 33 - 39

7. Frequency of replication/transcription errors in (A)/(T) runs of human genes

   • A. Paoloni-Giacobino
   • C. Rossier
   • S. Antonarakis

   Original Investigation 12 February 2014 Pages: 40 - 47

8. Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers

   • A. Bentivegna
   • M. Venturin
   • P. Riva

   Original Investigation 12 February 2014 Pages: 48 - 54

9. Glycerol kinase deficiency: Evidence for complexity in a single gene disorder

   • K. Dipple
   • Y.-H. Zhang
   • E. McCabe

   Original Investigation 12 February 2014 Pages: 55 - 62

10. Chimpanzee apolipoprotein H (β₂-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies

    • D. Sanghera
    • C. Nestlerode
    • M. Kamboh

    Original Investigations 12 February 2014 Pages: 63 - 72

11. Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

    • Manuela Sironi
    • Uberto Pozzoli
    • Nereo Bresolin

    Original Investigation 12 February 2014 Pages: 73 - 84

12. "Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype

    • S. Müller
    • J. Wienberg

    Original Investigation 12 February 2014 Pages: 85 - 94

13. A polymorphism in the promoter region of catalase is associated with blood pressure levels

    • Zhengwen Jiang
    • Joshua M. Akey
    • Li Jin

    Original Investigation 12 February 2014 Pages: 95 - 98

14. A molecular approach to dominance in hypophosphatasia

    • A. Lia-Baldini
    • F. Muller
    • E. Mornet

    Original Investigation 12 February 2014 Pages: 99 - 108

15. Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22

    • Mirjam Luijten
    • Sandra Redeker
    • Theo J. Hulsebos

    Original Investigation 12 February 2014 Pages: 109 - 116

16. Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency

    • Martin Trbušek
    • Hana Francová
    • Libor Kozák

    Original Investigation 12 February 2014 Pages: 117 - 120

17. Nomenclature for the description of human sequence variations

    • J. den Dunnen
    • S. Antonarakis

    Nomenclature Recommendations 12 February 2014 Pages: 121 - 124

18. Glutamine repeats and neurodegenerative diseases: molecular aspects

    • Oliver W. J. Quarrell

    Book Review 27 June 2001 Pages: 125 - 125