Torthaí cuardaigh - Stylianos E. Antonarakis

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  1. 1
    Recommendations for a nomenclature system for human gene mutations

    Recommendations for a nomenclature system for human gene mutations de réir Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 1998
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  2. 2
    Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms

    Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms de réir Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 1991
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  3. 3
    Functional genetic variation of human miRNAs and phenotypic consequences

    Functional genetic variation of human miRNAs and phenotypic consequences de réir Christelle Borel, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 2008
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  4. 4
    The challenge of Down syndrome

    The challenge of Down syndrome de réir Stylianos E. Antonarakis, Charles J. Epstein

    Foilsithe / Cruthaithe 2006
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  5. 5
    Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

    Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion de réir Johan T. den Dunnen, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 2000
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  6. 6
    Abnormal processing of beta Knossos RNA

    Abnormal processing of beta Knossos RNA de réir SH Orkin, Stylianos E. Antonarakis, D Loukopoulos

    Foilsithe / Cruthaithe 1984
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  7. 7
    Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.

    Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. de réir Stuart H. Orkin, Stylianos E. Antonarakis, H H Kazazian

    Foilsithe / Cruthaithe 1984
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  8. 8
    Genetic and Epigenetic Regulation of Human lincRNA Gene Expression

    Genetic and Epigenetic Regulation of Human lincRNA Gene Expression de réir Konstantin Popadin, María Gutiérrez‐Arcelus, Emmanouil T. Dermitzakis, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 2013
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  9. 9
    Molecular etiology of factor VIII deficiency in hemophilia A

    Molecular etiology of factor VIII deficiency in hemophilia A de réir Stylianos E. Antonarakis, Haig H. Kazazian, Edward G. D. Tuddenham

    Foilsithe / Cruthaithe 1995
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  10. 10
    Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia

    Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia de réir Marguerite Neerman‐Arbez, Ariane Honsberger, Stylianos E. Antonarakis, Michael A. Morris

    Foilsithe / Cruthaithe 1999
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  11. 11
    Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).

    Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). de réir Sotirios K. Karathanasis, Peter Oettgen, I. Aiza Haddad, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 1986
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  12. 12
    Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene.

    Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. de réir Stuart H. Orkin, Tu-Chen Cheng, Stylianos E. Antonarakis, H H Kazazian

    Foilsithe / Cruthaithe 1985
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  13. 13
    Polycythemia in transgenic mice expressing the human erythropoietin gene.

    Polycythemia in transgenic mice expressing the human erythropoietin gene. de réir Gregg L. Semenza, Monica D. Traystman, J D Gearhart, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 1989
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  14. 14
    Nonrandom association of polymorphic restriction sites in the β-globin gene cluster

    Nonrandom association of polymorphic restriction sites in the β-globin gene cluster de réir Stylianos E. Antonarakis, Corinne D. Boehm, Patricia J. Giardina, Haig H. Kazazian

    Foilsithe / Cruthaithe 1982
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  15. 15
    Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome

    Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome de réir Robert Lyle, Corinne Gehrig, Charlotte Neergaard-Henrichsen, Samuel Deutsch, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 2004
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  16. 16
    The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

    The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. de réir Effrosini P. Economou, Andrew W. Bergen, A. C. Warren, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 1990
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  17. 17
    Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene.

    Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene. de réir Gregg L. Semenza, M K Nejfelt, Lamiaa M. Salem, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 1991
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  18. 18
    Purifying Selection in Mammalian Mitochondrial Protein-Coding Genes Is Highly Effective and Congruent with Evolution of Nuclear Genes

    Purifying Selection in Mammalian Mitochondrial Protein-Coding Genes Is Highly Effective and Congruent with Evolution of Nuclear Genes de réir Konstantin Popadin, Sergey I. Nikolaev, Thomas Junier, Maria Baranova, Stylianos E. Antonarakis

    Foilsithe / Cruthaithe 2012
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  19. 19
    Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1

    Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1 de réir Paul S. Knoepfler, Katherine R. Calvo, Haiming Chen, Stylianos E. Antonarakis, Mark P. Kamps

    Foilsithe / Cruthaithe 1997
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  20. 20
    Down Syndrome: From Understanding the Neurobiology to Therapy

    Down Syndrome: From Understanding the Neurobiology to Therapy de réir Katheleen Gardiner, Yann Hérault, Ira T. Lott, Stylianos E. Antonarakis, Roger H. Reeves, Mara Dierssen

    Foilsithe / Cruthaithe 2010
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