Search Results - Matt Hurles

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  1. 1
    Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice

    Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice by Timothy J. Mohun, David J. Adams, Richard Baldock, Shoumo Bhattacharya, Andrew J. Copp, Myriam Hemberger, Corinne Houart, Matt Hurles, Elizabeth J. Robertson, James C. Smith, Tom Weaver, Wolfgang J. Weninger

    Published 2013
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    Editorial
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  2. 2
    Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

    Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy by Katy Barwick, Jane Wright, Saeed Al-Turki, Meriel M. McEntagart, Ajith Nair, Barry A. Chioza, A. Al‐Memar, Hamid Modarres, Mary M. Reilly, Katherine Dick, Alicia M. Ruggiero, Randy Blakely, Matt Hurles, Andrew H. Crosby

    Published 2012
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  3. 3
    Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

    Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures by Emma L. Baple, Reza Maroofian, Barry A. Chioza, Maryam Izadi, Harold E. Cross, Saeed Al-Turki, Katy Barwick, Anna E. Skrzypiec, Robert Pawlak, Karin Wagner, Roselyn Coblentz, Tala Zainy, Michael A. Patton, Sahar Mansour, Phillip Rich, Britta Qualmann, Matt Hurles, Michael M. Kessels, Andrew H. Crosby

    Published 2013
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    Artigo
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  4. 4
    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

    ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies by Sebahattin Çirak, A. Reghan Foley, Ralf Herrmann, Tobias Willer, Shu Yau, Elizabeth Stevens, Silvia Torelli, Lina Brodd, Alisa Kamynina, Petr Vondráček, Helen Roper, Cheryl Longman, Rudolf Korinthenberg, Gianni Marrosu, Peter Nürnberg, Daniel E. Michele, Vincent Plagnol, Matt Hurles, Steven A. Moore, Caroline A. Sewry, Kevin P. Campbell, Thomas Voït, Francesco Muntoni

    Published 2013
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    Artigo
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  5. 5
    Genetic basis of early onset and progression of type 2 diabetes in South Asians

    Genetic basis of early onset and progression of type 2 diabetes in South Asians by Sam Hodgson, Alice Williamson, Margherita Bigossi, Daniel Stow, Benjamin Meir Jacobs, Miriam Samuel, Joseph Gafton, Julia Zöllner, Marie Spreckley, Shaheen Akhtar, Ariadna González‐del Angel, Omar Asgar, Samina Ashraf, Saeed Bidi, Gerome Breen, James Broster, Raymond Chung, David Collier, Charles Curtis, Shabana Chaudhary, Grainne Colligan, Panos Deloukas, Ceri Durham, Faiza Durrani, Fabíola Eto, Joseph Gafton, Chris Griffiths, Joanne E. Harvey, Teng Heng, Qin Qin Huang, Karen A. Hunt, Matt Hurles, Shapna Hussain, Kamrul Islam, Vivek Iyer, Georgios Kalantzis, Ahsan Khan, Cath Lavery, Sang Hyuck Lee, Daniel G. MacArthur, Eamonn Maher, Daniel Malawsky, Sidra Malik, Hilary C. Martin, Dan Mason, Mohammed Bodrul Mazid, John McDermott, Caroline E Morton, William G. Newman, Vladimir Ovchinnikov, Elizabeth Owor, Iaroslav Popov, Asma Qureshi, Mehru Raza, Jessry Russell, Stuart Rison, Nishat Safa, Ayat Salman, Michael A. Simpson, John Solly, Michael D. Taylor, Richard C. Trembath, Karen Tricker, David A. van Heel, Klaudia Walter, Jan Whalley, Caroline Winckley, S. M. Wood, John Wright, Sabina Yasmin, Ishevanhu Zengeya, Claudia Langenberg, David A. van Heel, Rohini Mathur, Moneeza K. Siddiqui, Sarah Finer

    Published 2024
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  6. 6
    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 by Chiara Olcese, Mitali Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura A. Dyer, Thomas J. Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot‐Bastaraud, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin‐Robinet, Jean‐François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, C. R. Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M.K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, M Armengot, Estelle Escudier, Claire Hogg, Saeed Al-Turki, Carl A. Anderson, Dinu Antony, Inês Barroso, Philip L. Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, D. Allan, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Shane McCarthy, Dawn Muddyman, Francesco Muntoni, Victoria Parker, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

    Published 2017
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    Artigo
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  7. 7
    Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores

    Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores by Timing Liu, Alagu Sankareswaran, Gordon Paterson, Shaheen Akhtar, Ariadna González‐del Angel, Omar Asgar, Samina Ashraf, Saeed Bidi, Gerome Breen, James Broster, Raymond Chung, David Collier, Charles Curtis, Shabana Chaudhary, Grainne Colligan, Panos Deloukas, Ceri Durham, Faiza Durrani, Fabíola Eto, Sarah Finer, Karen A. Hunt, Matt Hurles, Shapna Hussain, Kamrul Islam, Vivek Iyer, Benjamin Meir Jacobs, Georgios Kalantzis, Ahsan Khan, Claudia Langenberg, Cath Lavery, Sang Hyuck Lee, Daniel G. MacArthur, Eamonn Maher, Daniel Malawsky, Sidra Malik, Hilary C. Martin, Dan Mason, Rohini Mathur, Mohammed Bodrul Mazid, John McDermott, Caroline E Morton, William G. Newman, Vladimir Ovchinnikov, Elizabeth Owor, Iaroslav Popov, Asma Qureshi, Mehru Raza, Jessry Russell, Stuart Rison, Nishat Safa, Ayat Salman, Miriam Samuel, Moneeza K. Siddiqui, Michael A. Simpson, John Solly, Marie Spreckley, Daniel Stow, Michael D. Taylor, Richard C. Trembath, Karen Tricker, Klaudia Walter, Jan Whalley, Caroline Winckley, S. M. Wood, John Wright, Sabina Yasmin, Ishevanhu Zengeya, Julia Zöllner, Diane P. Fraser, Sam Hodgson, Qin Huang, Teng Hiang Heng, Meera Ladwa, Nicholas J. Thomas, David A. van Heel, Michael N. Weedon, Chittaranjan S. Yajnik, Richard A. Oram, Giriraj R. Chandak, Hilary C. Martin, Sarah Finer

    Published 2025
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  8. 8
    TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport by Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Céline Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J.F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter Scambler, Marius Ueffing, Hülya Kayserili, Deborah Krakow, Stephen M. King, Philip L. Beales, Lihadh Al‐Gazali, Carol Wicking, Valérie Cormier‐Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman, Saeed Al-Turki, Carl E. Anderson, Richard Anney, Dinu Antony, Jennifer L. Asimit, Muhammad Ayub, J. M. Barrett, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Chris Boustred, Gerome Breen, Marie‐Jo Brion, Andrew H. Brown, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, George Davey Smith, Aaron Day-Williams, Ian N.M. Day, Richard Durbin, Sarah Edkins, Peter Ellis, David A. Evans, I. Sadaf Farooqi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Daniel H. Geschwind, Celia M.T. Greenwood, Detelina Grozeva, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Steve E. Humphries, Matt Hurles, Pirro G. Hysi, David H. Jackson, Yalda Jamshidi, David Jewell, J. Janse Chris, J. F. Kaye, Thomas Keane, John P. Kemp, Karen L. Kennedy, Alastair Kent, Anja Kolb‐Kokocinski

    Published 2015
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    Artigo
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  9. 9
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms by Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson

    Published 2016
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    Artigo
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  10. 10
    Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport by Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Céline Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J.F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter Scambler, Marius Ueffing, Hülya Kayserili, Deborah Krakow, Stephen M. King, Saeed Al-Turki, Carl E. Anderson, Richard Anney, Dinu Antony, Jennifer L. Asimit, Muhammad Ayub, J. M. Barrett, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Chris Boustred, Gerome Breen, Marie‐Jo Brion, Andrew H. Brown, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, George Davey Smith, Aaron Day-Williams, Ian N.M. Day, Richard Durbin, Sarah Edkins, Peter Ellis, David A. Evans, I. Sadaf Farooqi, Ghazaleh Fatemifar, David A. Fitzpatrick, Paul Flicek, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Daniel H. Geschwind, Celia M.T. Greenwood, Detelina Grozeva, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Steve E. Humphries, Matt Hurles, Pirro G. Hysi, David Jackson, Yalda Jamshidi, David Jewell, J. Janse Chris, J. F. Kaye, Thomas Keane, John D. Kemp, Karen L. Kennedy, Alastair Kent, Anja Kolb‐Kokocinski, Geneviève Lachance, Cordelia Langford, Irene Lee, Rui Li, Yingrui Li, Liu Ryan, Jouko Lönnqvist

    Published 2016
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    Errata/Corrigenda
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