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Dent’s disease and prevalence of renal stones in dialysis patients in Northeastern Italy JOURNAL ARTICLE published January 2006 in Journal of Human Genetics |
Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information JOURNAL ARTICLE published March 2006 in Journal of Human Genetics |
Unified method for Bayesian calculation of genetic risk JOURNAL ARTICLE published April 2006 in Journal of Human Genetics |
A misquoted mutation in exon16 of the BRCA2 gene JOURNAL ARTICLE published March 2006 in Journal of Human Genetics |
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles JOURNAL ARTICLE published September 2006 in Journal of Human Genetics |
Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene JOURNAL ARTICLE published June 2001 in Journal of Human Genetics |
A new haplogroup pattern displayed in Fujian Han in China JOURNAL ARTICLE published February 2002 in Journal of Human Genetics |
Cluster analysis and association study of structured multilocus genotype data JOURNAL ARTICLE published February 2005 in Journal of Human Genetics |
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis JOURNAL ARTICLE published August 2004 in Journal of Human Genetics |
Log-linear models for assessing gene–age interaction and their application to case-control studies of the apolipoprotein E (apoE) gene in Alzheimer's disease JOURNAL ARTICLE published October 2003 in Journal of Human Genetics |
Genomic structure and alternative splicing of the insulin receptor tyrosine kinase substrate of 53-kDa protein JOURNAL ARTICLE published August 2003 in Journal of Human Genetics |
Clinical and genetic features of cystic fibrosis in Japan JOURNAL ARTICLE published October 2023 in Journal of Human Genetics |
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation JOURNAL ARTICLE published October 2017 in Journal of Human Genetics |
Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility JOURNAL ARTICLE published January 2008 in Journal of Human Genetics |
Association of radial bone mineral density with CA repeat polymorphism at the interleukin 6 locus in postmenoposal Japanese women JOURNAL ARTICLE published May 1999 in Journal of Human Genetics |
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations JOURNAL ARTICLE published March 2006 in Journal of Human Genetics |
Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk JOURNAL ARTICLE published October 2023 in Journal of Human Genetics Research funded by Russian Science Foundation (22-24-00264,22-24-00264) |
Exogenous gene expression and growth regulation of hematopoietic cells via a novel human artificial chromosome JOURNAL ARTICLE published February 2006 in Journal of Human Genetics |
Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels JOURNAL ARTICLE published December 2013 in Journal of Human Genetics |
Complete genome sequencing and variant analysis of a Pakistani individual JOURNAL ARTICLE published September 2013 in Journal of Human Genetics |