Works matching DE "HUMAN molecular genetics"
Results: 186
Still Missing.
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- Research in Human Development, 2011, v. 8, n. 3/4, p. 227, doi. 10.1080/15427609.2011.625321
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- Article
Contributions to our understanding of T cell physiology through unveiling the T cell proteome.
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- Clinical & Experimental Immunology, 2007, v. 149, n. 1, p. 9, doi. 10.1111/j.1365-2249.2007.03395.x
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Loss of expression of antigen-presenting molecules in human pancreatic cancer and pancreatic cancer cell lines.
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- Clinical & Experimental Immunology, 2007, v. 148, n. 1, p. 127, doi. 10.1111/j.1365-2249.2006.03289.x
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- Article
Molecular analysis of Friedreich's ataxia locus in the Indian population.
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- Acta Neurologica Scandinavica, 2000, v. 102, n. 4, p. 227, doi. 10.1034/j.1600-0404.2000.102004227.x
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- Article
The molecular concept of law.
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- Utrecht Law Review, 2011, v. 7, n. 1, p. 141, doi. 10.18352/ulr.166
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- Article
Inferring Function Using Patterns of Native Disorder in Proteins.
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- PLoS Computational Biology, 2007, v. 3, n. 8, p. 1567, doi. 10.1371/journal.pcbi.0030162
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Lipocalin 2 is essential for chronic kidney disease progression in mice and humans.
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- 2010
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- journal article
From genomics to mechanistic insight: A global perspective on molecular deficits induced by environmental agents.
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- Environmental & Molecular Mutagenesis, 2007, v. 48, n. 5, p. 395, doi. 10.1002/em.20310
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Generation of a functional humanized Delta-like ligand 4 transgenic mouse model.
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- Transgenic Research, 2017, v. 26, n. 6, p. 791, doi. 10.1007/s11248-017-0040-3
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- Article
Genetic Demographic Survey of the Gagauz Population of Moldova.
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- Russian Journal of Genetics, 2003, v. 39, n. 9, p. 1061, doi. 10.1023/A:1025735420247
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- Article
Polymorphism of Xenobiotic Metabolism Genes in Petrochemical Workers.
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- Russian Journal of Genetics, 2003, v. 39, n. 9, p. 1070, doi. 10.1023/A:1025787404317
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- Article
Prevalence and Molecular Genetic Typing of Nonsyndromic Sensorineural Deafness in Chuvash Republic.
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- Russian Journal of Genetics, 2003, v. 39, n. 9, p. 1076, doi. 10.1023/A:1025739521156
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- Article
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.
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- Clinical Case Reports, 2015, v. 3, n. 2, p. 114, doi. 10.1002/ccr3.168
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- Article
Pharmacogenetics and the future of medical practice.
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- British Journal of Clinical Pharmacology, 2002, v. 54, n. 2, p. 221, doi. 10.1046/j.1365-2125.2002.01630.x
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- Article
Molecular Genetic Analysis of Two Functional Candidate Genes in the Autosomal Recessive Retinitis Pigmentosa, RP25, Locus.
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- Current Eye Research, 2005, v. 30, n. 12, p. 1081, doi. 10.1080/02713680500351039
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- Article
Physicians Apply Genome Research to Treating Critical Illness and Injury.
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- JAMA: Journal of the American Medical Association, 2004, v. 291, n. 3, p. 287, doi. 10.1001/jama.291.3.287
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Constructing disease-specific gene networks using pair-wise relevance metric: Application to colon cancer identifies interleukin 8, desmin and enolase 1 as the central elements.
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- BMC Systems Biology, 2008, v. 2, p. 1, doi. 10.1186/1752-0509-2-72
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- Article
Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy.
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- Journal of Neurology, 2010, v. 257, n. 11, p. 1864, doi. 10.1007/s00415-010-5624-2
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- Article
Molecular genetic basis of Gilbert’s syndrome.
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- Journal of Gastroenterology & Hepatology, 1999, v. 14, n. 10, p. 960, doi. 10.1046/j.1440-1746.1999.01984.x
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- Article
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
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- Human Molecular Genetics, 2001, v. 10, n. 9, p. 911, doi. 10.1093/hmg/10.9.911
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- Article
Inducible expression of mutant α -synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis.
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- Human Molecular Genetics, 2001, v. 10, n. 9, p. 919, doi. 10.1093/hmg/10.9.919
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- Article
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
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- Human Molecular Genetics, 2001, v. 10, n. 9, p. 953, doi. 10.1093/hmg/10.9.953
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- Article
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.
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- Human Molecular Genetics, 2001, v. 10, n. 3, p. 243, doi. 10.1093/hmg/10.3.243
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Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1813, doi. 10.1093/hmg/9.12.1813
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- Article
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1753, doi. 10.1093/hmg/9.12.1753
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Link between a novel human γ D-crystallin allele and a unique cataract phenotype explained by protein crystallography.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1779, doi. 10.1093/hmg/9.12.1779
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- Article
Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1795, doi. 10.1093/hmg/9.12.1795
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Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1829, doi. 10.1093/hmg/9.12.1829
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Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1873, doi. 10.1093/hmg/9.12.1873
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Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1759, doi. 10.1093/hmg/9.12.1759
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A Cre- lox recombination system for the targeted integration of circular yeast artificial chromosomes into embryonic stem cells.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1745, doi. 10.1093/hmg/9.12.1745
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Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1881, doi. 10.1093/hmg/9.12.1881
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Human mini-chromosomes with minimal centromeres.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1891, doi. 10.1093/hmg/9.12.1891
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Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNA.
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- Human Molecular Genetics, 2000, v. 9, n. 2, p. 149, doi. 10.1093/hmg/9.2.149
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Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2425, doi. 10.1093/hmg/8.13.2425
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Gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2387, doi. 10.1093/hmg/8.13.2387
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The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2497, doi. 10.1093/hmg/8.13.2497
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Very large (CAG)[sup n] DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2473, doi. 10.1093/hmg/8.13.2473
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Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2525, doi. 10.1093/hmg/8.13.2525
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Mapping of a blood pressure quantitative trait locus to chromosome 15q in a Chinese population.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2551
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Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2437, doi. 10.1093/hmg/8.13.2437
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Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2377, doi. 10.1093/hmg/8.13.2377
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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2533, doi. 10.1093/hmg/8.13.2533
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Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2339, doi. 10.1093/hmg/8.13.2339
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Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human Beta-thalassemic mutations.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2415, doi. 10.1093/hmg/8.13.2415
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Disassembly of nuclear inclusions in the dividing cell--a novel insight into neurodegeneration.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2451, doi. 10.1093/hmg/8.13.2451
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Molecular genetics of the Finnish disease heritage.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1913, doi. 10.1093/hmg/8.10.1913
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Williams-Beuren syndrome: genes and mechanisms.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1947, doi. 10.1093/hmg/8.10.1947
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Repetitive conundrums of centromere structureand function.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 151, doi. 10.1093/hmg/8.2.151
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Hereditary lymphedema: evidence for linkage and genetic heterogeneity.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article