Resultats de la cerca - Sara Cuvertino

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  1. 1
    In Vivo Repopulating Activity Emerges at the Onset of Hematopoietic Specification during Embryonic Stem Cell Differentiation

    In Vivo Repopulating Activity Emerges at the Onset of Hematopoietic Specification during Embryonic Stem Cell Differentiation per Stella Pearson, Sara Cuvertino, Maud Fleury, Georges Lacaud, Valérie Kouskoff

    Publicat 2015
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  2. 2
    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine per Víctor Faúndes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith D. Ranells, Miranda Splitt, Laura Cross, Carol Saunders, Bonnie Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

    Publicat 2021
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  3. 3
    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia per Frédéric M. Vaz, John McDermott, Mariëlle Alders, Saskia B. Wortmann, Stefan Kölker, Mia L. Pras‐Raves, Martin A. T. Vervaart, Henk van Lenthe, Angela C. M. Luyf, Hyung L. Elfrink, Kay Metcalfe, Sara Cuvertino, Peter Clayton, Rebecca Yarwood, Martin Lowe, Simon C. Lovell, Richard C. Rogers, Antoine H. C. van Kampen, Jos P.N. Ruiter, Ronald J. A. Wanders, Sacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka

    Publicat 2019
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  4. 4
    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome per Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al‐Gazali, Natalie Canham, Víctor Faúndes, Frances Flinter, Jozef Hertecant, Muriel Holder‐Espinasse, Brian R. Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard C. Trembath, David A. van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka

    Publicat 2020
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  5. 5
    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder per Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka

    Publicat 2017
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