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Journal of Human Genetics|July 14, 2001
The genomic structure and expression of MJD, the Machado-Joseph disease geneY Ichikawa, J Goto, M Hattori, et al.Journal of Human Genetics|July 14, 2001
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type IaY Ishikawa, T Tajima, J Nakae, et al.Journal of Human Genetics|June 8, 2001
Seventy genetic variations in human microsomal and soluble epoxide hydrolase genes (EPHX1 and EPHX2) in the Japanese populationS Saito, A Iida, A Sekine, et al.Journal of Human Genetics|February 1, 2003
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiencyRoel J P Smeets, Jan A M Smeitink, Ben A Semmekrot, et al.Journal of Human Genetics|February 1, 2003
The interleukin 6-174G/C polymorphism is associated with indices of obesity in menMarie-Thérèse Berthier, Ann-Marie Paradis, André Tchernof, et al.Journal of Human Genetics|February 1, 2003
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiencyHenian Cao, Robert A HegeleJournal of Human Genetics|February 26, 2003
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyriaAsa Wiman, Ylva Floderus, Pauline HarperJournal of Human Genetics|February 26, 2003
Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 geneRamon M Coral-Vazquez, Haydee Rosas-Vargas, Pedro Meza-Espinosa, et al.Journal of Human Genetics|February 26, 2003
Isolation and characterization of a novel human NM23-H1B gene, a different transcript of NM23-H1Xiaohua Ni, Shaohua Gu, Jianliang Dai, et al.Journal of Human Genetics|March 8, 2003
Construction and characterization of a vestibular-specific cDNA library using T7-based RNA amplificationSatoko Abe, Kumiko Koyama, Shin-ichi Usami, et al.Pageof 353