Resultados de búsqueda - Rodney D. Gilbert

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  1. 1
    Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease

    Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease por Ahmed A. Z. Dawoud, Rodney D. Gilbert, William Tapper, Nicholas C.P. Cross

    Publicado 2021
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  2. 2
    Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

    Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome por Hugh J. McCarthy, Agnieszka Bierżyńska, M. Wherlock, Miloš Ognjanović, Larissa Kerecuk, Shivaram Hegde, Sally Feather, Rodney D. Gilbert, Leah Krischock, Caroline Jones, Manish D. Sinha, Nicholas J.A. Webb, Martin Christian, Margaret M. Williams, Stephen D. Marks, Ania Koziell, Gavin I. Welsh, Moin A. Saleem

    Publicado 2013
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  3. 3
    Mutations in PIK3R1 Cause SHORT Syndrome

    Mutations in PIK3R1 Cause SHORT Syndrome por David A. Dyment, Amanda Smith, Diana Alcantara, Jeremy Schwartzentruber, Lina Basel‐Vanagaite, Cynthia J. Curry, I. Karen Temple, William Reardon, Sahar Mansour, Mushfequr R. Haq, Rodney D. Gilbert, Ordan J. Lehmann, Megan R. Vanstone, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Kym M. Boycott, A. Micheil Innes

    Publicado 2013
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  4. 4
    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation por Bobby G. Ng, Kati J. Buckingham, Kimiyo Raymond, Martin Kircher, Emily H. Turner, Miao He, Joshua D. Smith, Alexey M. Eroshkin, Marta Szybowska, Marie E. Losfeld, Jessica X. Chong, Mariya Kozenko, Chumei Li, Marc C. Patterson, Rodney D. Gilbert, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Hudson H. Freeze

    Publicado 2013
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  5. 5
    Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

    Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management por Agnieszka Bierżyńska, Hugh J. McCarthy, Katrina Soderquest, Ethan S. Sen, Elizabeth Colby, Wen Y. Ding, Marwa M. Nabhan, Larissa Kerecuk, Shivram Hegde, David Hughes, Stephen D. Marks, Sally Feather, Caroline Jones, Nicholas J.A. Webb, Miloš Ognjanović, Martin Christian, Rodney D. Gilbert, Manish D. Sinha, Graham M. Lord, Michael A. Simpson, Ania Koziell, Gavin I. Welsh, Moin A. Saleem

    Publicado 2017
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  6. 6
    Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland

    Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland por Vicky Brocklebank, Sally Johnson, Thomas P. Sheerin, Stephen D. Marks, Rodney D. Gilbert, Kay Tyerman, Meredith Kinoshita, Atif Awan, Amrit Kaur, Nicholas J.A. Webb, Shivaram Hegde, Eric Finlay, Maggie Fitzpatrick, Patrick R. Walsh, Edwin Wong, Caroline Booth, Larissa Kerecuk, Alan D. Salama, Mike Almond, Carol Inward, Timothy H.J. Goodship, Neil Sheerin, Kevin J. Marchbank, David Kavanagh

    Publicado 2017
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  7. 7
    Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

    Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis por Hugo Lemoine, Loann Raud, François Foulquier, John A. Sayer, B. Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C. Harris, Pascal Trouvé, Aurore Després, Gabrielle Duneau, Marie Matignon, Anaïs Poyet, Noémie Jourde‐Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Séret, Miguel Barroso‐Gil, Coralie Bingham, Rodney D. Gilbert, Yannick Le Meur, Marie‐Pierre Audrézet, Émilie Cornec-Le Gall

    Publicado 2022
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  8. 8
    Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations

    Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations por Mariana Moysés‐Oliveira, Giuliana Giannuzzi, Richard J. Fish, Jill A. Rosenfeld, Florence Petit, Maria de Fátima Soares, Leslie Domenici Kulikowski, Adriana Di‐Battista, Malú Zamariolli, Fan Xia, Thomas Liehr, Nadezda Kosyakova, Gianna Carvalheira, Michael Parker, Eleanor G. Seaby, Sarah Ennis, Rodney D. Gilbert, R. Tanner Hagelstrom, María Laura Cremona, Wenhui L. Li, Alka Malhotra, Anjana Chandrasekhar, Denise Perry, Ryan J. Taft, Julie McCarrier, Donald Basel, Joris Andrieux, Taiza Stumpp, Fernanda Antunes, Gustavo J.S. Pereira, Marguerite Neerman‐Arbez, Vera Ayres Meloni, Margaret Drummond‐Borg, Maria Isabel Melaragno, Alexandre Reymond

    Publicado 2017
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  9. 9
    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders por Jenny C. Taylor, Hilary C. Martin, Stefano Lise, John Broxholme, Jean‐Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A.R. Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, P Bignell, Edward Blair, Veronica J. Buckle, Katherine R. Bull, Ondřej Cais, Holger Cario, Helen Chapel, Richard R. Copley, Richard J. Cornall, Jude Craft, Karin Dahan, Emma E. Davenport, Calliope A. Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D. Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V. Gruszczyk, Robert Hastings, Edouard Hatton, Douglas R. Higgs, Adrian V. S. Hill, Chris Holmes, Malcolm F. Howard, Linda Hughes, Peter Humburg, David H. Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C. Knight, Jonathan Krohn, Sarah Lamble, Craig B. Langman, Lorne Lonie, Joshua Luck, Davis J. McCarthy, Simon J. McGowan, Mary Frances McMullin, Kerry A. Miller, Lisa Murray, Andrea H. Németh, M. Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Oturai, Alistair T. Pagnamenta, Smita Y. Patel, Melanie J. Percy, Nayia Petousi, Paolo Piazza, Siân E. Piret, Guadalupe Polanco‐Echeverry, Niko Popitsch, Fiona Powrie, Christopher W. Pugh, Lynn Quek, Peter A. Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A. van Schouwenburg, Anna Schuh, Earl D. Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V. Thakker, Ian Tomlinson, Amy Trebes, Stephen R.F. Twigg, Holm H. Uhlig, Paresh Vyas, Tim J. Vyse, Steven A. Wall, Hugh Watkins, Michael P. Whyte, Lorna Witty

    Publicado 2015
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