Publications
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The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2018 ;176(1):214-218.
. Human metabolome associates with dietary intake habits among African Americans in the atherosclerosis risk in communities study. Am J Epidemiol. 2014 ;179(12):1424-33.
. . . Horizontal gene transfer in cyanobacterial signature genes. Methods Mol Biol. 2009 ;532:339-66.
. Haplotype block linkage disequilibrium mapping. Front Biosci. 2003 ;8:a85-93.
. The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003 ;68:13-22.
. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 ;10(3):e1004258.
. A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 ;56(1):150-5.
. Human generation times across the past 250,000 years. Sci Adv. 2023 ;9(1):eabm7047.
. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 2003 ;13(5):845-55.
. High-resolution characterization of a hepatocellular carcinoma genome. Nat Genet. 2011 ;43(5):464-9.
. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 ;23(10):1901-1911.
. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies. PLoS Genet. 2008 ;4(8):e1000139.
. HSPA6 and its role in cancers and other diseases. Mol Biol Rep. 2022 ;49(11):10565-10577.
. Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
. Hemichordate genomes and deuterostome origins. Nature. 2015 ;527(7579):459-65.
. HFE H63D Polymorphism and the Risk for Systemic Hypertension, Myocardial Remodeling, and Adverse Cardiovascular Events in the ARIC Study. Hypertension. 2019 ;73(1):68-74.
. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017 ;15(1):62.
. . High expression of adhesion molecules/activation markers with little interleukin-2, interferon gamma, and tumor necrosis factor beta gene activation in fresh tumor-infiltrating lymphocytes from lung adenocarcinoma. Cancer Immunol Immunother. 1995 ;41(1):1-9.
. High-throughput gene expression profiling--a work-in-progress with great potential for proteomics. Curr Opin Drug Discov Devel. 2006 ;9(3):332-8.
. Heritability of brain volume, surface area and shape: an MRI study in an extended pedigree of baboons. Hum Brain Mapp. 2007 ;28(6):576-83.
. How is the Drosophila research community making use of the genome sequence?. Genome Biol. 2003 ;4(5):319.
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