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Journal of Human Genetics|April 4, 2006
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafishLouis M Kunkel, Estanislao Bachrach, Richard R Bennett, et al.Journal of Human Genetics|March 18, 2006
Tissue specificity of methylation and expression of human genes coding for neuropeptides and their receptors, and of a human endogenous retrovirus K familyHong-Mei Shen, Akifumi Nakamura, Jun Sugimoto, et al.Journal of Human Genetics|July 28, 2006
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese familyMugen Liu, Xu Wang, Zhou Cai, et al.Journal of Human Genetics|August 10, 2006
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney diseaseCarsten Bergmann, Valeska Frank, Fabian Küpper, et al.Journal of Human Genetics|August 10, 2006
Polymorphisms in interleukin 8 and its receptors (IL8, IL8RA and IL8RB) and association of common IL8 receptor variants with peripheral blood eosinophil countsHyun Sub Cheong, Hyoung Doo Shin, Soo Ok Lee, et al.Journal of Human Genetics|September 16, 2006
Glutathione S-transferase M1 and GST T1 genetic polymorphisms and Raynaud's phenomenon in French vinyl chloride monomer-exposed workersLuc Fontana, Marie-Jeanne Marion, Sylvie Ughetto, et al.Journal of Human Genetics|September 15, 2006
New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implicationsMilica Kontic, Iciar Palacios, Ángelo Gámez, et al.Journal of Human Genetics|September 8, 2006
Similarity of the allele frequency and linkage disequilibrium pattern of single nucleotide polymorphisms in drug-related gene loci between Thai and northern East Asian populations: implications for tagging SNP selection in ThaisSurakameth Mahasirimongkol, Wasun Chantratita, Somying Promso, et al.Journal of Human Genetics|October 6, 2006
What is a 'novel' mtDNA mutation--and does 'novelty' really matter?Hans-Jürgen Bandelt, Antonio Salas, Claudio M BraviJournal of Human Genetics|September 5, 2006
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian familyAkela Radha Rama Devi, Munimanda Gopikrishna, Raman Ratheesh, et al.Pageof 353