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Academic Journal

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.

  • Authors : Annear DJ; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Vandeweyer G

Subjects: Genetic Predisposition to Disease* ; Genome, Human* ; Polymorphism, Genetic*

  • Source: Scientific reports [Sci Rep] 2021 Jan 28; Vol. 11 (1), pp. 2515. Date of Electronic Publication: 2021 Jan 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Initial impact of the sequencing of the human genome.

  • Authors : Lander ES; Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.

Subjects: Genetics, Medical*/Genetics, Medical*/Genetics, Medical*/trends ; Human Genome Project*/Human Genome Project*/Human Genome Project*/history; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

  • Source: Nature [Nature] 2011 Feb 10; Vol. 470 (7333), pp. 187-97.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

  • Authors : Pagel KA; School of Informatics, Computing, and Engineering, Indiana University, Bloomington, Indiana, United States of America.; Antaki D

Subjects: Genome, Human*/Genome, Human*/Genome, Human*/genetics ; Genome, Human*/Genome, Human*/Genome, Human*/physiology ; INDEL Mutation*/INDEL Mutation*/INDEL Mutation*/genetics

  • Source: PLoS computational biology [PLoS Comput Biol] 2019 Jun 14; Vol. 15 (6), pp. e1007112. Date of Electronic Publication: 2019 Jun 14 (Print Publication: 2019).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet

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Periodical

Human genome 10th anniversary. What would you do?

Subjects: Genetic Predisposition to Disease* ; Genetic Privacy* ; Genetic Testing*

  • Source: Science (New York, N.Y.) [Science] 2011 Feb 11; Vol. 331 (6018), pp. 662-5.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium:

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Academic Journal

Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology.

  • Authors : Hu Y; School of Life Science and Technology, Harbin Institute of Technology, Harbin 150001, China.; Zhou W

Subjects: Gene Ontology*; Chromosome Mapping/Chromosome Mapping/Chromosome Mapping/*methods ; Documentation/Documentation/Documentation/*methods

  • Source: BioMed research international [Biomed Res Int] 2016; Vol. 2016, pp. 4130861. Date of Electronic Publication: 2016 Aug 22.Publisher: Wiley Country of Publication: United States NLM ID: 101600173 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Functional annotation of HOT regions in the human genome: implications for human disease and cancer.

  • Authors : Li H; Department of Biotechnology, Beijing Institute of Radiation Medicine, Beijing 100850, China.; Chen H

Subjects: Genetic Variation*; Disease/Disease/Disease/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

  • Source: Scientific reports [Sci Rep] 2015 Jun 26; Vol. 5, pp. 11633. Date of Electronic Publication: 2015 Jun 26.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Structural variation mutagenesis of the human genome: Impact on disease and evolution.

  • Authors : Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, Texas.

Subjects: Genetic Predisposition to Disease* ; Genomic Structural Variation* ; Mutagenesis*

  • Source: Environmental and molecular mutagenesis [Environ Mol Mutagen] 2015 Jun; Vol. 56 (5), pp. 419-36. Date of Electronic Publication: 2015 Apr 17.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8800109 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A copy number variation map of the human genome.

  • Authors : Zarrei M; The Centre for Applied Genomics, and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.; MacDonald JR

Subjects: Chromosome Mapping* ; DNA Copy Number Variations* ; Genetic Predisposition to Disease*

  • Source: Nature reviews. Genetics [Nat Rev Genet] 2015 Mar; Vol. 16 (3), pp. 172-83. Date of Electronic Publication: 2015 Feb 03.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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