Hasil Pencarian - Peter Turnpenny

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  1. 1
    Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”

    Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact” oleh Shane Doheny, Angus Clarke, Daniele Carrieri, Sandi Dheensa, Naomi Hawkins, Anneke Lucassen, Peter Turnpenny, Susan Kelly

    Diterbitkan 2018-07-01
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  2. 2
    PTPN4 germline variants result in aberrant neurodevelopment and growth

    PTPN4 germline variants result in aberrant neurodevelopment and growth oleh Joanna J. Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg, Boris Keren, Cyril Mignot, Luis Escobar, Peter Turnpenny, Melissa Zuteck, Laurie H. Seaver, Rafal Ploski, Magdalena Dziembowska, Anthony Wynshaw-Boris, Abidemi Adegbola

    Diterbitkan 2021-07-01
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  3. 3
    Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules

    Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules oleh Charlotte Lovatt, Megan Williams, Alex Gibbs, Abdullahi Mukhtar, Huw J. Morgan, Simone Lanfredini, Carlotta Olivero, Gill Spurlock, Sally Davies, Charlotte Philpott, Hannah Tovell, Peter Turnpenny, Dilair Baban, Sam Knight, Hilde Brems, Julian R. Sampson, Eric Legius, Meena Upadhyaya, Girish K. Patel

    Diterbitkan 2024-10-01
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  4. 4
    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. oleh Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Benedicte Duban-Bedu, Benedicte Gerard, Amelie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter Turnpenny, Michael P Williamson, Yves Alembik, Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Eric Glasgow, Alisdair McNeill

    Diterbitkan 2017-08-01
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  5. 5
    Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

    Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellect... oleh Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans, Adam Jackson, Iain Bruce, Robert Walker, Sangeet Sidhu, Catrina Dyer, Jane Ashworth, Daniel Hindley, Gemma Arca Diaz, Myfanwy Rawson, Peter Turnpenny

    Diterbitkan 2019-07-01
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  6. 6
    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved]

    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved] oleh Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman

    Diterbitkan 2018-04-01
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