Sign in
Facet browsing currently unavailable
Page 6 of 3518 results
Sort by: relevance publication year
|
Yfm1, a multicopy marker specific for the Y chromosome and beneficial for forensic, population, genetic, and spermatogenesis-related studies JOURNAL ARTICLE published October 2002 in Journal of Human Genetics |
|
Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome JOURNAL ARTICLE published March 2000 in Journal of Human Genetics |
|
New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation JOURNAL ARTICLE published December 1998 in Journal of Human Genetics |
|
A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia JOURNAL ARTICLE published March 2000 in Journal of Human Genetics |
|
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia JOURNAL ARTICLE published December 1998 in Journal of Human Genetics |
|
cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18 JOURNAL ARTICLE published May 2000 in Journal of Human Genetics |
|
Dent’s disease and prevalence of renal stones in dialysis patients in Northeastern Italy JOURNAL ARTICLE published January 2006 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 |
|
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease JOURNAL ARTICLE published April 2004 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 |
|
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 |
|
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 |
|
Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation JOURNAL ARTICLE published February 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 |
|
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome JOURNAL ARTICLE published March 2010 in Journal of Human Genetics |
|
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism JOURNAL ARTICLE published February 2019 in Journal of Human Genetics Research funded by DST | Science and Engineering Research Board (YSS/2015/001681) |
|
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II JOURNAL ARTICLE published December 2009 in Journal of Human Genetics |
|
Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese JOURNAL ARTICLE published November 2012 in Journal of Human Genetics |
|
Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta JOURNAL ARTICLE published June 2016 in Journal of Human Genetics |
|
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene JOURNAL ARTICLE published May 2016 in Journal of Human Genetics |