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Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome JOURNAL ARTICLE published July 2019 in Journal of Human Genetics |
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice JOURNAL ARTICLE published March 2006 in Journal of Human Genetics |
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan JOURNAL ARTICLE published August 2013 in Journal of Human Genetics |
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa JOURNAL ARTICLE published October 2005 in Journal of Human Genetics |
Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy JOURNAL ARTICLE published December 2008 in Journal of Human Genetics |
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation JOURNAL ARTICLE published January 2012 in Journal of Human Genetics |
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides JOURNAL ARTICLE published July 2022 in Journal of Human Genetics |
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations JOURNAL ARTICLE published February 2017 in Journal of Human Genetics |
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations JOURNAL ARTICLE published May 2017 in Journal of Human Genetics |
Japanese insurers’ attitudes toward adverse selection and genetic discrimination: a questionnaire survey and interviews with employees about using genetic test results JOURNAL ARTICLE published May 2021 in Journal of Human Genetics |
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy JOURNAL ARTICLE published June 2012 in Journal of Human Genetics |
Detection of inappropriate samples in association studies by an IBS-based method considering linkage disequilibrium between genetic markers JOURNAL ARTICLE published July 2010 in Journal of Human Genetics |
Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population JOURNAL ARTICLE published December 1998 in Journal of Human Genetics |
Isolation and characterization of a human cDNA encoding a protein homologous to the 7.2-kDa protein (subunit X) of bovine ubiquinol-cytochrome C reductase JOURNAL ARTICLE published January 2000 in Journal of Human Genetics |
Identification of a novel single nucleotide polymorphism (SNP) in the human organic cation transporter-like 2-antisense (ORCTL2S) gene JOURNAL ARTICLE published January 2000 in Journal of Human Genetics |
Isolation and mapping of a polymorphic CA repeat sequence at the human VRK1 locus JOURNAL ARTICLE published March 1999 in Journal of Human Genetics |
“Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes” JOURNAL ARTICLE published March 2021 in Journal of Human Genetics |
OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations JOURNAL ARTICLE published August 2007 in Journal of Human Genetics |
Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier JOURNAL ARTICLE published July 2005 in Journal of Human Genetics |
Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection JOURNAL ARTICLE published September 2002 in Journal of Human Genetics |