Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly Iêda M. OrioliEduardo E. CastillaMaximilian Muenke Original Investigation 12 February 2014 Pages: 1 - 6
Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene Rosa Martínez-AriasEva MateuFrancesc Calafell Original Investigation 12 February 2014 Pages: 7 - 10
Population-based risk estimates of Wilms tumor in sporadic aniridia Karen GrønskovJørgen H. OlsenThomas Rosenberg Original Investigation 12 February 2014 Pages: 11 - 18
Genetic basis of mitochondrial HMG-CoA synthase deficiency Rosa AledoJohannes ZschockeFausto G. Hegardt Original Investigation 12 February 2014 Pages: 19 - 23
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations Isaura RibeiroAna MarcãoGilles Millat Original Investigation 12 February 2014 Pages: 24 - 32
Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families Michael D. BrownSergei ZhadanovDouglas C. Wallace Original Investigation 12 February 2014 Pages: 33 - 39
Frequency of replication/transcription errors in (A)/(T) runs of human genes A. Paoloni-GiacobinoC. RossierS. Antonarakis Original Investigation 12 February 2014 Pages: 40 - 47
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers A. BentivegnaM. VenturinP. Riva Original Investigation 12 February 2014 Pages: 48 - 54
Glycerol kinase deficiency: Evidence for complexity in a single gene disorder K. DippleY.-H. ZhangE. McCabe Original Investigation 12 February 2014 Pages: 55 - 62
Chimpanzee apolipoprotein H (β2-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies D. SangheraC. NestlerodeM. Kamboh Original Investigations 12 February 2014 Pages: 63 - 72
Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms Manuela SironiUberto PozzoliNereo Bresolin Original Investigation 12 February 2014 Pages: 73 - 84
"Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype S. MüllerJ. Wienberg Original Investigation 12 February 2014 Pages: 85 - 94
A polymorphism in the promoter region of catalase is associated with blood pressure levels Zhengwen JiangJoshua M. AkeyLi Jin Original Investigation 12 February 2014 Pages: 95 - 98
A molecular approach to dominance in hypophosphatasia A. Lia-BaldiniF. MullerE. Mornet Original Investigation 12 February 2014 Pages: 99 - 108
Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22 Mirjam LuijtenSandra RedekerTheo J. Hulsebos Original Investigation 12 February 2014 Pages: 109 - 116
Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency Martin TrbušekHana FrancováLibor Kozák Original Investigation 12 February 2014 Pages: 117 - 120
Nomenclature for the description of human sequence variations J. den DunnenS. Antonarakis Nomenclature Recommendations 12 February 2014 Pages: 121 - 124
Glutamine repeats and neurodegenerative diseases: molecular aspects Oliver W. J. Quarrell Book Review 27 June 2001 Pages: 125 - 125