1. Increased amount of the angiotensin-converting enzyme (ACE) mRNA originating from the ACE allele with deletion

   • Tadashi Suehiro
   • Tatsuhito Morita
   • Kozo Hashimoto

   Original Investigation 26 May 2004 Pages: 91 - 96

   

2. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts

   • Takeshi Morisawa
   • Mariko Yagi
   • Masafumi Matsuo

   Original Investigation 02 June 2004 Pages: 97 - 103

   

3. Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy

   • S. M. Mann
   • N. J. Wang
   • N. C. Schanen

   Original Investigation 13 May 2004 Pages: 104 - 111

   

4. Somatic mutations of CASP3 gene in human cancers

   • Young Hwa Soung
   • Jong Woo Lee
   • Sug Hyung Lee

   Original Investigation 04 May 2004 Pages: 112 - 115

   

5. Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates

   • Violaine Goidts
   • Justyna M. Szamalek
   • Hildegard Kehrer-Sawatzki

   Original Investigation 07 May 2004 Pages: 116 - 122

   

6. Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

   • Ruth M. Brown
   • Rosemary A. Head
   • Garry K. Brown

   Original Investigation 11 May 2004 Pages: 123 - 127

   

7. Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses

   • Karen E. Deffenbacher
   • Judith B. Kenyon
   • Shelley D. Smith

   Original Investigation 11 May 2004 Pages: 128 - 138

   

8. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3

   • Emma T. Tonkin
   • Melanie Smith
   • Tom Strachan

   Original Investigation 27 May 2004 Pages: 139 - 148

   

9. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)

   • Mirjam W. J. Luijendijk
   • Erwin van Wijk
   • Hannie Kremer

   Original Investigation 02 June 2004 Pages: 149 - 156

   

10. Does haplotype diversity predict power for association mapping of disease susceptibility?

    • Weihua Zhang
    • Andrew Collins
    • Newton E. Morton

    Original Investigation 04 June 2004 Pages: 157 - 164

    

11. Lexikon der Syndrome und Fehlbildungen. Ursachen, Genetik, Risiken (2003)

    • Eberhard Passarge

    Book Review 29 May 2004 Pages: 165 - 165

12. Myotonic dystrophy: present management, future therapy (2004)

    • Christiane Schneider-Gold

    Book Review 11 May 2004 Pages: 166 - 166

13. Human evolutionary genetics: origins, peoples, and disease (2004)

    • Matthew V. Rockman

    Book Review 13 May 2004 Pages: 167 - 168

14. Human Gene Mutations

    Human Gene Mutations 10 June 2004 Pages: 169 - 175