检索结果 - Shelagh Joss

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  1. 1
    Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.

    Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability. 由 Veronica M. Pravatà, Villő Muha, Mehmet Gundogdu, Andrew T. Ferenbach, Poonam Kakade, Vasudha Vandadi, Ariane C. Wilmes, Vladimir S. Borodkin, Shelagh Joss, Marios P. Stavridis, Daan M. F. van Aalten

    出版 2019
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  2. 2
    Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

    Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability 由 Veronica M. Pravatà, Villő Muha, Mehmet Gundogdu, Andrew T. Ferenbach, Poonam Kakade, Vasudha Vandadi, Ariane C. Wilmes, Vladimir S. Borodkin, Shelagh Joss, Marios P. Stavridis, Daan M. F. van Aalten

    出版 2019
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  3. 3
    An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

    An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase 由 Veronica M. Pravatà, Michaela Omelková, Marios P. Stavridis, Chelsea Desbiens, Hannah Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells, Daan M. F. van Aalten

    出版 2020
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    Revisão
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  4. 4
    Mutations in the PP2A regulatory subunit B family genes<i>PPP2R5B</i>,<i>PPP2R5C</i>and<i>PPP2R5D</i>cause human overgrowth

    Mutations in the PP2A regulatory subunit B family genes<i>PPP2R5B</i>,<i>PPP2R5C</i>and<i>PPP2R5D</i>cause human overgrowth 由 Chey Loveday, Katrina Tatton‐Brown, Matthew Clarke, Isaac M. Westwood, Anthony Renwick, Emma Ramsay, Andrea H. Németh, Jennifer Campbell, Shelagh Joss, McKinlay Gardner, Anna Zachariou, Anna Elliott, Elise Ruark, Rob van Montfort, Nazneen Rahman

    出版 2015
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  5. 5
    A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

    A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency 由 David Parry, Tim D. Holmes, Nikita Gamper, Walid El‐Sayed, Nishani T. Hettiarachchi, Mushtaq Ahmed, Graham P. Cook, Clare V. Logan, Colin A. Johnson, Shelagh Joss, Chris Peers, Katrina Prescott, Sinisa Savic, Chris F. Inglehearn, Alan J. Mighell

    出版 2015
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    Carta
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  6. 6
    Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

    Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability 由 А. А. Кашеварова, Л. П. Назаренко, Soren Schultz-Pedersen, N. A. Skryabin, Olga A. Salyukova, Nataliya N. Chechetkina, Е. Н. Толмачева, А. А. Рудко, Pamela Magini, Claudio Graziano, G. Cara Romeo, Shelagh Joss, Zeynep Tümer, И. Н. Лебедев

    出版 2014
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    Artigo
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  7. 7
    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies 由 Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Edward J. Taylor, Claire Collinson, Deborah Ruddy, Katie Snape, Bruno Dallapiccola, John Tolmie, Shelagh Joss, Francesco Brancati, M. Cristina Digilio, Luitgard Graul‐Neumann, Leonardo Salviati, Wiltrud Coerdt, Emmanuel Jacquemin, Wim Wuyts, Martin Zenker, Rajiv D. Machado, Richard C. Trembath

    出版 2015
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    Artigo
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  8. 8
    Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

    Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants 由 Joseph D. Symonds, Katherine S. Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus, Ioana Cutcutache, Louise A Diver, Liam Dorris, Sarah L. Gardiner, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Ailsa McLellan, Stewart Macleod, Mary O’Regan, Matthew Page, Elizabeth Pilley, Daniela T. Pilz, Elma Stephen, Kirsty Stewart, Houman Ashrafian, Julian C. Knight, Sameer M. Zuberi

    出版 2021
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    Artigo
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  9. 9
    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases 由 Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi

    出版 2017
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    Artigo
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  10. 10
    Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

    Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis 由 Carol-Anne Martin, Jennie Murray, Paula Carroll, Andrea Leitch, Karen J. Mackenzie, Mihail Halachev, Ahmed E. Fetit, Charlotte Keith, Louise S. Bicknell, Adeline Fluteau, Philippe Gautier, Emma A. Hall, Shelagh Joss, Gabriela Soares, João Silva, Michael B. Bober, Angela L. Duker, Carol A. Wise, Alan J. Quigley, Shubha R. Phadke, Andrew J. Wood, Paola Vagnarelli, Andrew P. Jackson

    出版 2016
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    Artigo
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  11. 11
    BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

    BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription 由 Cristina Dias, Sara B. Estruch, Sarah A. Graham, Jeremy F. McRae, Stephen J. Sawiak, Jane A. Hurst, Shelagh Joss, Susan Holder, Jenny E.V. Morton, Claire Turner, Julien Thévenon, Kelly Mellul, Gabriela Sánchez-Andrade, Ximena Ibarra-Soria, Pelagia Derizioti, Rui F. Santos, Song‐Choon Lee, Laurence Faivre, Tjitske Kleefstra, Pentao Liu, M.E. Hurles, Simon E. Fisher, Darren W. Logan

    出版 2016
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  12. 12
    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability 由 Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri

    出版 2017
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  13. 13
    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome

    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome 由 Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, Emma Burkitt‐Wright, Hilary C. Martin, Matteo P. Ferla, John Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton‐Brown, Ruth Newbury‐Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D. Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, Edward Blair, Jenny C. Taylor, Helen Stewart

    出版 2019
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    Artigo
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  14. 14
    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals 由 Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown

    出版 2019
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  15. 15
    Clinical and genetic aspects of KBG syndrome

    Clinical and genetic aspects of KBG syndrome 由 Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Katherine Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter D. Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson

    出版 2016
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  16. 16
    Mosaic structural variation in children with developmental disorders

    Mosaic structural variation in children with developmental disorders 由 Daniel A. King, Wendy D. Jones, Yanick J. Crow, Anna F. Dominiczak, N Foster, Tom R. Gaunt, Jade Harris, Stephen Hellens, Tessa Homfray, Josie Innes, Elizabeth A. Jones, Shelagh Joss, Abhijit Kulkarni, Sahar Mansour, Andrew D. Morris, Michael Parker, David J. Porteous, Hashem A. Shihab, Blair H. Smith, Katrina Tatton‐Brown, John Tolmie, Maciej Trzaskowski, Pradeep Vasudevan, Emma Wakeling, Michael Wright, Robert Plomin, Nicholas J. Timpson, Matthew E. Hurles

    出版 2015
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  17. 17
    Pathogenicity and selective constraint on variation near splice sites

    Pathogenicity and selective constraint on variation near splice sites 由 Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton‐Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne McConnell, Wayne Lam, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    出版 2018
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    Artigo
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  18. 18
    Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients

    Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients 由 Katrin Tefs, Marieta Gueorguieva, Jürgen Klammt, Carl M. Allen, Dilek Aktaş, F.Y. Anlar, Semih Aydoğdu, Deborah Brown, Ergi̇n Çi̇ftçi̇, P. Contarini, C.‐E. Dempfle, Miroslav Dostálek, Sheri Eisert, Aslan Gökbuget, Ömer Günhan, Ahmed A. Hidayat, Boris Hügle, Mete Işıkoğlu, Murat İrkeç, Shelagh Joss, Sonja Klebe, Carolin Kneppo, I Kurtulus, R. P. Mehta, Kemal Örnek, Reinhard Schneppenheim, Stefan Seregard, Emma L. Sweeney, Stephanie Turtschi, Gábor Veres, Evan Zeitler, M. Ziegler, Volker Schuster

    出版 2006
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    Artigo
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  19. 19
    Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

    Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort 由 Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O’Regan, Stewart Macleod, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Andreas Brunklaus, Daniela T. Pilz, Jay Shetty, Liam Dorris, Ishaq Abu‐Arafeh, Jamie Andrew, Philip Brink, Mary Callaghan, Jamie Cruden, Louise A Diver, Christine Findlay, Sarah L. Gardiner, Rosemary Grattan, Bethan Lang, Jane MacDonnell, Jean McKnight, Calum A. Morrison, Lesley Nairn, Meghan M. Slean, Elma Stephen, Alan Webb, Angela Vincent, Margaret T. Wilson

    出版 2019
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    Artigo
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  20. 20
    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype 由 Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valérie Cormier‐Daire, Tom Cushing, Frances Flinter, Marie‐Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael A. Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra E. Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Nazneen Rahman

    出版 2013
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