Rezultati pretrage - Justin O. Szot

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Detaljiziraj rezultate
  1. 1
    Notch4 reveals a novel mechanism regulating Notch signal transduction

    Notch4 reveals a novel mechanism regulating Notch signal transduction od Alexander C. James, Justin O. Szot, Kala Iyer, Joelene Major, Sharon E. Pursglove, Gavin Chapman, Sally L. Dunwoodie

    Izdano 2014
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  2. 2
    Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders

    Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders od Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas A. Drysdale, Josue Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria Mok Siu, Sally L. Dunwoodie

    Izdano 2019
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  3. 3
    A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data

    A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data od Justin O. Szot, Hartmut Cuny, Gillian M. Blue, David T. Humphreys, Eddie Ip, Katrina Harrison, Gary F. Sholler, Eleni Giannoulatou, Paul Leo, Emma L. Duncan, Duncan B. Sparrow, Joshua W. K. Ho, Robert M. Graham, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Sally L. Dunwoodie

    Izdano 2018
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  4. 4
    Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

    Identification of clinically actionable variants from genome sequencing of families with congenital heart disease od Dimuthu Alankarage, Eddie Ip, Justin O. Szot, Jacob E. Munro, Gillian M. Blue, Katrina Harrison, Hartmut Cuny, Annabelle Enriquez, Michael Troup, David T. Humphreys, Meredith Wilson, Richard P. Harvey, Gary F. Sholler, Robert M. Graham, Joshua W. K. Ho, Edwin P. Kirk, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie

    Izdano 2018
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  5. 5
    Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants

    Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants od Gavin Chapman, Julie Moreau, I P Eddie, Justin O. Szot, Kavitha R. Iyer, Hongjun Shi, Michelle Yam, Victoria C. O׳Reilly, Annabelle Enriquez, Joelene A Greasby, Dimuthu Alankarage, Ella MMA Martin, Bernadette Hanna, Matthew Edwards, Steven Monger, Gillian M. Blue, David S. Winlaw, Helen E. Ritchie, Stuart M. Grieve, Eleni Giannoulatou, Duncan B. Sparrow, Sally L. Dunwoodie

    Izdano 2019
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  6. 6
    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... od Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh

    Izdano 2017
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  7. 7
    NAD Deficiency, Congenital Malformations, and Niacin Supplementation

    NAD Deficiency, Congenital Malformations, and Niacin Supplementation od Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella MMA Martin, Roni Wang, Julie Moreau, Chai K. Lim, Justin O. Szot, Eddie Ip, James N. Hughes, Kotaro Sugimoto, David T. Humphreys, Aideen M. McInerney‐Leo, Paul Leo, Ghassan J. Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R. Mark, Felicity Collins, David Sillence, David S. Winlaw, Joshua W. K. Ho, Gilles J. Guillemin, Matthew A. Brown, Kazu Kikuchi, Paul Q. Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L. Duncan, Duncan B. Sparrow, Sally L. Dunwoodie

    Izdano 2017
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  8. 8
    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder od Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

    Izdano 2024
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