检索结果 - Verity Hartill

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  1. 1
    Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

    Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances 由 Verity Hartill, Katarzyna Szymańska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson

    出版 2017
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    Revisão
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  2. 2
    <i>HACE1</i>deficiency causes an autosomal recessive neurodevelopmental syndrome

    <i>HACE1</i>deficiency causes an autosomal recessive neurodevelopmental syndrome 由 Ronja Hollstein, David Parry, Nalbach Lisa, Clare V. Logan, Tim M. Strom, Verity Hartill, Ian Carr, Georg Christoph Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F. Markham, Christopher Bennett, Gabriele Gillessen‐Kaesbach, Eamonn Sheridan, Frank J. Kaiser, David T. Bonthron

    出版 2015
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    Artigo
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  3. 3
    BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

    BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome 由 Kerry A. Miller, David A. Cruz Walma, Daniel M. Pinkas, Rebecca S Tooze, Joshua C. Bufton, William Richardson, C. Manning, Alice E. Hunt, Julien Cros, Verity Hartill, Michael Parker, Simon J. McGowan, Stephen R.F. Twigg, R. Chalk, David Staunton, David Johnson, Andrew O.M. Wilkie, Alex N. Bullock

    出版 2024
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    Artigo
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  4. 4
    The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase

    The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase 由 Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper J. Mygind, John Hintze, Jiang Chen, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie‐Rosell, Marie McDonald, Lars Hestbjerg Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim

    出版 2023
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    Artigo
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  5. 5
    Genetic association analysis of 77,539 genomes reveals rare disease etiologies

    Genetic association analysis of 77,539 genomes reveals rare disease etiologies 由 Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al‐Owain, Arnaud P. J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D. Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Østergaard, Bart Loeys, Hiroko Morisaki, Zubair M. Ahmed, Graeme M. Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro

    出版 2023
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    Artigo
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  6. 6
    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 由 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

    出版 2020
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    Artigo
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  7. 7
    Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

    Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 由 Hannah Kennedy, Tobias B. Haack, Verity Hartill, Lavinija Mataković, E. R. Baumgartner, Howard Potter, Richard Mackay, Charlotte L. Alston, Siobhán O’Sullivan, Robert McFarland, Grainne Connolly, Caroline Gannon, Richard King, Scott Mead, Ian Crozier, Wandy Chan, Chris Florkowski, Martin Sage, Thomas Höfken, Bader Alhaddad, Laura S. Kremer, Robert Kopajtich, René G. Feichtinger, Wolfgang Sperl, Richard J. Rodenburg, Jean Claude Minet, Angus Dobbie, Tim M. Strom, Thomas Meitinger, Peter M. George, Colin A. Johnson, Robert W. Taylor, Holger Prokisch, Kit Doudney, Johannes A. Mayr

    出版 2016
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    Artigo
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