Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients Ying-Hwa ChenShing-Jong LinLee-Young Chau Original Investigation 16 April 2014 Pages: 1 - 8
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations Andrea AngiusDaniela BebbereMario Pirastu Original Investigation 16 April 2014 Pages: 9 - 15
Centromeric association of chromosome 16- and 18-derived microchromosomes Ute FelborDésirée RutschowMichael Schmid Original Investigation 16 April 2014 Pages: 16 - 25
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness Xiao OuyangXia XiaXue Liu Original Investigation 16 April 2014 Pages: 26 - 30
Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay Susanne PoppBirgit SchulzeAnna Jauch Original Investigation 16 April 2014 Pages: 31 - 39
A new locus for coeliac disease mapped to chromosome 15 in a population isolate Niina WoolleyPäivi HolopainenJukka Partanen Original Investigation 16 April 2014 Pages: 40 - 45
Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region Boris A. MalyarchukIgor B. RogozinMiroslava V. Derenko Original Investigation 16 April 2014 Pages: 46 - 53
SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations Swapan K. NathJennifer A. KellyJohn B. Harley Original Investigation 16 April 2014 Pages: 54 - 58
Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties José SoriaJohn BlangeroJordi Fontcuberta Original Investigation 16 April 2014 Pages: 59 - 65
DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding Rebecca RowntreeAnn Harris Original Investigation 16 April 2014 Pages: 66 - 74
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample Stephanie M. FullertonAndrew G. ClarkDeborah A. Nickerson Original Investigation 16 April 2014 Pages: 75 - 87
Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15 Li-Kuo SuWendy KohlmannPatrick M. Lynch Original Investigation 16 April 2014 Pages: 88 - 95
SNP identification, haplotype analysis, and parental origin of mutations in TSC2 Penelope S. RobertsJoon ChungDavid J. Kwiatkowski Original Investigation 16 April 2014 Pages: 96 - 101
Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection Rogério GrimaldiNice ShindoBernardo Galvão-Castro Short Report 16 April 2014 Pages: 102 - 104
The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome Flavia CerratoMaria VernucciAndrea Riccio Short Report 16 April 2014 Pages: 105 - 107
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers Waltraut FriedlSiegfried UhlhaasPeter Propping Short Report 16 April 2014 Pages: 108 - 111
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001 J.-P. FrynsT. de Ravel Software Review 16 April 2014 Pages: 113 - 113
Erratum to: Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts P. LeegwaterP. BoorM. van der Knaap Erratum 16 April 2014 Pages: 114 - 114
