Hasil Pencarian - Rani Sachdev

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  1. 1
    Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly

    Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly oleh Suzanna E. L. Temple, Rani Sachdev, Carolyn Ellaway

    Diterbitkan 2020-11-01
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  2. 2
    Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies

    Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies oleh Suzanne M. Nevin, Claire E. Wakefield, Ann Dadich, Fleur LeMarne, Rebecca Macintosh, Erin Beavis, Rani Sachdev, Ann Bye, Kenneth Nunn, Elizabeth E. Palmer

    Diterbitkan 2022-12-01
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  3. 3
    Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol

    Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol oleh Stephanie Best, Elizabeth E Palmer, Lauren Kelada, Rani Sachdev, Eden G Robertson, I Goranitis, Natalie Grainger, Fleur Le Marne, Kristine Pierce, Suzanne M Nevin, Rebecca Macintosh, Erin Beavis, Annie Bye

    Diterbitkan 2022-10-01
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  4. 4
    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy oleh Sushmitha Gururaj, Elizabeth Emma Palmer, Garrett D. Sheehan, Tejaswi Kandula, Rebecca Macintosh, Kevin Ying, Paula Morris, Jiang Tao, Kerith-Rae Dias, Ying Zhu, Marcel E. Dinger, Mark J. Cowley, Edwin P. Kirk, Tony Roscioli, Rani Sachdev, Michael E. Duffey, Ann Bye, Arin Bhattacharjee

    Diterbitkan 2017-10-01
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  5. 5
    Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

    Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome oleh Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar

    Diterbitkan 2018-08-01
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