Hasil Pencarian - Erfan Aref-Eshghi

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  1. 1
    Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders

    Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders oleh Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref-Eshghi, Bekim Sadikovic

    Diterbitkan 2020-12-01
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  2. 2
    Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues

    Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues oleh Erfan Aref-Eshghi, Erfan Aref-Eshghi, Laila C. Schenkel, Laila C. Schenkel, Peter Ainsworth, Peter Ainsworth, Hanxin Lin, Hanxin Lin, David I. Rodenhiser, David I. Rodenhiser, David I. Rodenhiser, Jean-Claude Cutz, Bekim Sadikovic, Bekim Sadikovic

    Diterbitkan 2018-04-01
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  3. 3
    Six-year time-trend analysis of dyslipidemia among adults in Newfoundland and Labrador: findings from the laboratory information system between 2009 and 2014

    Six-year time-trend analysis of dyslipidemia among adults in Newfoundland and Labrador: findings from the laboratory information system between 2009 and 2014 oleh Pardis Pedram, Erfan Aref-Eshghi, Hensley H. Mariathas, Oliver Hurley, Marshall Godwin, Pauline Duke, Masoud Mahdavian, Shabnam Asghari

    Diterbitkan 2018-05-01
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  4. 4
    Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia

    Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia oleh Erfan Aref-Eshghi, Oliver Hurley, Guang Sun, Alvin Simms, Marshall Godwin, Pauline Duke, Mehdee Araee, Masoud Mahdavian, Shabnam Asghari

    Diterbitkan 2018-11-01
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  5. 5
    The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

    The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance oleh Erfan Aref-Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic

    Diterbitkan 2017-11-01
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  6. 6
    Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

    Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C oleh Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz, Bekim Sadikovic

    Diterbitkan 2018-02-01
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  7. 7
    SMAD3 is associated with the total burden of radiographic osteoarthritis: the Chingford study.

    SMAD3 is associated with the total burden of radiographic osteoarthritis: the Chingford study. oleh Erfan Aref-Eshghi, Yuhua Zhang, Deborah Hart, Ana M Valdes, Andrew Furey, Glynn Martin, Guang Sun, Proton Rahman, Nigel Arden, Tim D Spector, Guangju Zhai

    Diterbitkan 2014-01-01
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  8. 8
    Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1

    Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1 oleh Daniel E. Martin-Herranz, Erfan Aref-Eshghi, Marc Jan Bonder, Thomas M. Stubbs, Sanaa Choufani, Rosanna Weksberg, Oliver Stegle, Bekim Sadikovic, Wolf Reik, Janet M. Thornton

    Diterbitkan 2019-08-01
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  9. 9
    Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

    Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type oleh Sadegheh Haghshenas, Michael A. Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Haley McConkey, Tugce Balci, Victoria Mok Siu, Cindy D. Skinner, Roger E. Stevenson, Bekim Sadikovic, Charles Schwartz

    Diterbitkan 2021-01-01
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  10. 10
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome oleh Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic

    Diterbitkan 2019-04-01
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  11. 11
    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes oleh Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic

    Diterbitkan 2018-11-01
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