Increased amount of the angiotensin-converting enzyme (ACE) mRNA originating from the ACE allele with deletion Tadashi SuehiroTatsuhito MoritaKozo Hashimoto Original Investigation 26 May 2004 Pages: 91 - 96
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts Takeshi MorisawaMariko YagiMasafumi Matsuo Original Investigation 02 June 2004 Pages: 97 - 103
Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy S. M. MannN. J. WangN. C. Schanen Original Investigation 13 May 2004 Pages: 104 - 111
Somatic mutations of CASP3 gene in human cancers Young Hwa SoungJong Woo LeeSug Hyung Lee Original Investigation 04 May 2004 Pages: 112 - 115
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 GoidtsJustyna M. SzamalekHildegard Kehrer-Sawatzki Original Investigation 07 May 2004 Pages: 116 - 122
Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency Ruth M. BrownRosemary A. HeadGarry K. Brown Original Investigation 11 May 2004 Pages: 123 - 127
Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses Karen E. DeffenbacherJudith B. KenyonShelley D. Smith Original Investigation 11 May 2004 Pages: 128 - 138
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 Emma T. TonkinMelanie SmithTom Strachan Original Investigation 27 May 2004 Pages: 139 - 148
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. LuijendijkErwin van WijkHannie Kremer Original Investigation 02 June 2004 Pages: 149 - 156
Does haplotype diversity predict power for association mapping of disease susceptibility? Weihua ZhangAndrew CollinsNewton E. Morton Original Investigation 04 June 2004 Pages: 157 - 164
Lexikon der Syndrome und Fehlbildungen. Ursachen, Genetik, Risiken (2003) Eberhard Passarge Book Review 29 May 2004 Pages: 165 - 165
Myotonic dystrophy: present management, future therapy (2004) Christiane Schneider-Gold Book Review 11 May 2004 Pages: 166 - 166
Human evolutionary genetics: origins, peoples, and disease (2004) Matthew V. Rockman Book Review 13 May 2004 Pages: 167 - 168