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A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness JOURNAL ARTICLE published March 2015 in Journal of Human Genetics |
Six-layer structure for genomics and its applications JOURNAL ARTICLE published March 2016 in Journal of Human Genetics |
Farewell: retirement as Editor-in-Chief of the Journal of Human Genetics and launching Human Genome Variation JOURNAL ARTICLE published January 2014 in Journal of Human Genetics |
Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene JOURNAL ARTICLE published September 2013 in Journal of Human Genetics |
Erratum: Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease JOURNAL ARTICLE published December 2012 in Journal of Human Genetics |
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2) JOURNAL ARTICLE published December 2014 in Journal of Human Genetics |
Correction: Corrigendum: The paternal ancestry of Uttarakhand does not imitate the classical caste system of India JOURNAL ARTICLE published September 2016 in Journal of Human Genetics |
Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence JOURNAL ARTICLE published March 2013 in Journal of Human Genetics |
Commentary on ‘Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center’ JOURNAL ARTICLE published September 2010 in Journal of Human Genetics |
Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families JOURNAL ARTICLE published December 2009 in Journal of Human Genetics |
Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population JOURNAL ARTICLE published April 2010 in Journal of Human Genetics |
Comparison of genome-wide variation between Malawians and African ancestry HapMap populations JOURNAL ARTICLE published June 2010 in Journal of Human Genetics |
Pleiotropy of type 2 diabetes with obesity JOURNAL ARTICLE published July 2011 in Journal of Human Genetics |
A commentary on comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection JOURNAL ARTICLE published August 2014 in Journal of Human Genetics |
A commentary on types of DNA methylation status of the interspersed repetitive sequences for LINE-1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controls JOURNAL ARTICLE published April 2014 in Journal of Human Genetics |
A common polymorphism in the tissue kallikrein gene is associated with increased urinary excretions of calcium and sodium in Japanese volunteers JOURNAL ARTICLE published November 2013 in Journal of Human Genetics |
Erratum: An A/C germline single-nucleotide polymorphism in the TNFAIP3 gene is associated with advanced disease stage and survival in only surgically treated esophageal cancer JOURNAL ARTICLE published February 2015 in Journal of Human Genetics |
A message for 2016 JOURNAL ARTICLE published June 2016 in Journal of Human Genetics |
Nonparametric method for detecting imprinting effect using all members of general pedigrees with missing data JOURNAL ARTICLE published October 2014 in Journal of Human Genetics |
Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction JOURNAL ARTICLE published November 2014 in Journal of Human Genetics |