Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms Christine J. ShawJames R. Lupski Original Investigation 22 October 2004 Pages: 1 - 7
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients T. G. W. LetteboerR. A. ZewaldJ. K. Ploos van Amstel Original Investigation 23 October 2004 Pages: 8 - 16
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1 Khushnooda RamzanRehan S. ShaikhSheikh Riazuddin Original Investigation 06 November 2004 Pages: 17 - 22
Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A Kazuki KijimaChikahiko NumakuraKiyoshi Hayasaka Original Investigation 11 November 2004 Pages: 23 - 27
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree Neil HowellIwona KubackaPatrick F. Chinnery Original Investigation 03 November 2004 Pages: 28 - 32
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease Christiane MühleQiu-Jie JiangHolm Schneider Original Investigation 05 November 2004 Pages: 33 - 42
Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus Annika RökmanAgnes B. Baffoe-BonnieJohanna Schleutker Original Investigation 11 November 2004 Pages: 43 - 50
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome Patrick BoomsReinhard PreglaPeter N. Robinson Original Investigation 23 October 2004 Pages: 51 - 61
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval Yanli FanJane S. GreenWilliam S. Davidson Original Investigation 23 October 2004 Pages: 62 - 71
Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease Marie José StasiaPierre BordigoniFrançoise Morel Original Investigation 06 November 2004 Pages: 72 - 82
A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome Katrina PrescottKathryn WoodfinePeter Scambler Original Investigation 10 November 2004 Pages: 83 - 90
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients Esteban BallestarSantiago RoperoManel Esteller Original Investigation 11 November 2004 Pages: 91 - 104
Linkage disequilibrium between microsatellite markers in the Swedish Sami relative to a worldwide selection of populations Åsa JohanssonVeronika Vavruch-NilssonUlf Gyllensten Original Investigation 11 November 2004 Pages: 105 - 113
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia Samuel Canizales-QuinterosCarlos A. Aguilar-SalinasMa. Teresa. Tusié-Luna Original Investigation 17 November 2004 Pages: 114 - 120
Complex segregation analysis reveals a multigene model for lung cancer Hongyan XuMargaret R. SpitzSanjay Shete Original Investigation 16 November 2004 Pages: 121 - 127
Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family Baorong ZhangKun XiaJiahui Xia Short Report 23 October 2004 Pages: 128 - 131