检索结果 - Barbara R. DuPont

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  1. 1
    Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

    Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities 由 Bradley Lee Griggs, Sydney Ladd, Robert A. Saul, Barbara R. DuPont, Anand Srivastava

    出版 2007
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  2. 2
    The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

    The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes 由 Peining Li, Barbara R. DuPont, Qiping Hu, Marco Crimi, Yiping Shen, И. Н. Лебедев, Thomas Liehr

    出版 2022
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  3. 3
    Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

    Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing 由 Nikhil Sahajpal, Ashis K. Mondal, Timothy Fee, Benjamin Hilton, Lawrence C. Layman, Alex Hastie, Alka Chaubey, Barbara R. DuPont, Ravindra Kolhe

    出版 2023
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  4. 4
    Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

    Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability 由 Kavita Bhalla, Yue Luo, Tim Buchan, Michael A. Beachem, Gregory F. Guzauskas, Sydney Ladd, Shelly J. Bratcher, Richard J. Schroer, Janne Balsamo, Barbara R. DuPont, Jack Lilien, Anand K. Srivastava

    出版 2008
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  5. 5
    <i>AGTR2</i> Mutations in X-Linked Mental Retardation

    <i>AGTR2</i> Mutations in X-Linked Mental Retardation 由 Virginie Vervoort, Michael A. Beachem, Penny S. Edwards, Sydney Ladd, Karin E. Miller, Xavier de Mollerat, Katie Clarkson, Barbara R. DuPont, Charles E. Schwartz, Roger E. Stevenson, Ellen Boyd, Anand K. Srivastava

    出版 2002
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  6. 6
    Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

    Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome 由 Gustavo Henrique Apolinário Vieira, Jayson Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno Faulin Gamba, Daniel R. Carvalho, Andréa de Rezende Duarte, Suely Rodrigues dos Santos, Deise Helena de Souza, Barbara R. DuPont, Katherina Walz, Danilo Moretti‐Ferreira, Anand K. Srivastava

    出版 2011
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  7. 7
    DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

    DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome 由 Laila C. Schenkel, Erfan Aref‐Eshghi, Kathleen Rooney, Jennifer Kerkhof, Michael A. Levy, Hannah McConkey, R. Curtis Rogers, Katy Phelan, Sara M. Sarasua, Lavanya Jain, Rini Pauly, Luigi Boccuto, Barbara R. DuPont, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Charles E. Schwartz, Bekim Sadiković

    出版 2021
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  8. 8
    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities 由 Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying Zou, Wen‐Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steve Skinner, R. Curtis Rogers, David B. Everman, E. Boyd, Caley Tapp, Sureni V. Mullegama, Debra Keelean‐Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara R. DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

    出版 2013
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  9. 9
    KDM5A mutations identified in autism spectrum disorder using forward genetics

    KDM5A mutations identified in autism spectrum disorder using forward genetics 由 Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem, Jamie L. Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S. Alsaif, Abolfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R. DuPont, Raymond J. Louie, Madeline Couse, Maha Faden, R. Curtis Rogers, Rami Abou Jamra, Ellen Roy Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H. Chahrour

    出版 2020
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  10. 10
    Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

    Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders 由 Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof, Erfan Aref‐Eshghi, Laila C. Schenkel, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E. Schwartz, Roger E. Stevenson, Steven A. Skinner, Barbara R. DuPont, Robin S. Fletcher, Tuğçe B. Balcı, Victoria Mok Siu, Jorge L. Granadillo, Jennefer Masters, Mike Kadour, Michael J. Friez, Mieke M. van Haelst, Marcel M.A.M. Mannens, Raymond J. Louie, Jennifer A. Lee, Matthew L. Tedder, Mariëlle Alders

    出版 2021
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  11. 11
    Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders 由 Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier‐Veber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M.A.M. Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tuğçe B. Balcı, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gécz, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matthew L. Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Geneviève, Bekim Sadiković

    出版 2020
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  12. 12
    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 由 Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    出版 2021
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  13. 13
    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders 由 Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    出版 2022
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