Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 10
Results: 9
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 549, doi. 10.1038/jhg.2014.70
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A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 569, doi. 10.1038/jhg.2014.74
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- Article
Telomerase expression in amyotrophic lateral sclerosis (ALS) patients.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 555, doi. 10.1038/jhg.2014.72
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- Article
GST Theta null genotype is associated with an increased risk for ulcerative colitis: a case-control study and meta-analysis of GST Mu and GST Theta polymorphisms in inflammatory bowel disease.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 575, doi. 10.1038/jhg.2014.77
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A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Article
Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 585, doi. 10.1038/jhg.2014.76
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'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 589, doi. 10.1038/jhg.2014.75
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Nonparametric method for detecting imprinting effect using all members of general pedigrees with missing data.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 541, doi. 10.1038/jhg.2014.67
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- Article
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 563, doi. 10.1038/jhg.2014.73
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- Article