Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 6/7
Results: 12
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 553, doi. 10.1007/s00439-018-1910-3
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Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 543, doi. 10.1007/s00439-018-1909-9
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Admixture mapping and fine-mapping of birth weight loci in the Black Women’s Health Study.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 535, doi. 10.1007/s00439-018-1908-x
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Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 521, doi. 10.1007/s00439-018-1906-z
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A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 437, doi. 10.1007/s00439-018-1895-y
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Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 511, doi. 10.1007/s00439-018-1904-1
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 479, doi. 10.1007/s00439-018-1901-4
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A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 471, doi. 10.1007/s00439-018-1899-7
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De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 459, doi. 10.1007/s00439-018-1898-8
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IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 447, doi. 10.1007/s00439-018-1897-9
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A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 487, doi. 10.1007/s00439-018-1902-3
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- Article
Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference.
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- Human Genetics, 2018, v. 137, n. 6/7, p. 431, doi. 10.1007/s00439-018-1894-z
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- Article