检索结果 - Ruth Charlton

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  1. 1
    Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

    Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping 由 Christopher M. Watson, Laura A. Crinnion, Ian Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth Charlton, Angus Dobbie, Ian Carr, David T. Bonthron

    出版 2016
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  2. 2
    PMS2 Mutations in Childhood Cancer

    PMS2 Mutations in Childhood Cancer 由 Michel De Vos, Bruce E. Hayward, Ruth Charlton, Graham R. Taylor, Adam Glaser, Susan Picton, Trevor Cole, Eamonn R. Maher, Carole M. E. McKeown, Jill R. Mann, John R. Yates, Diana Baralle, Julia Rankin, David T. Bonthron, Eamonn Sheridan

    出版 2006
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  3. 3
    Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel 由 Jie Huang, Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L. Min, Petr Danecek, Giovanni Malerba, Elisabetta Trabetti, Hou‐Feng Zheng, Saeed Al Turki, Antoinette Amuzu, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Marianne Benn, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Juan P. Casas, John C. Chambers, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Cocca, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Ian N.M. Day, Aaron Day-Williams, George Dedoussis, Thomas A. Down, Yuanping Du, Cornelia M. van Duijn, Ian Dunham, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evans, I. Sadaf Farooqi, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Paolo Gasparini, Tom R. Gaunt, Matthias Geihs, Daniel H. Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, Valentina Iotchkova, Aaron Isaacs, David K. Jackson, Yalda Jamshidi, Jon Johnson, Christopher Joyce, Konrad J. Karczewski, Jane Kaye, Thomas Keane, John P. Kemp

    出版 2015
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  4. 4
    Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

    Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity 由 Audrey E. Hendricks, Elena G. Bochukova, Gaëlle Marenne, Julia M. Keogh, Neli Atanassova, Rebecca Bounds, Eleanor Wheeler, Vanisha Mistry, Elana Henning, Antje Körner, Dawn Muddyman, Shane McCarthy, Anke Hinney, Johannes Hebebrand, Robert A. Scott, Claudia Langenberg, Nicholas J. Wareham, Praveen Surendran, Joanna M. M. Howson, Adam S. Butterworth, John Danesh, Børge G. Nordestgaard, Sune F. Nielsen, Shoaib Afzal, Sofia Papadia, Sofie Ashford, Sumedha Garg, Glenn L. Millhauser, Rafael I. Palomino, Alexandra Kwasniewska, Ioanna Tachmazidou, Stephen O’Rahilly, Eleftheria Zeggini, Inês Barroso, I. Sadaf Farooqi, Michaela Benzeval, Jonathan Burton, Nicholas Buck, Annette Jäckle, Meena Kumari, Heather Laurie, Peter Lynn, Stephen Pudney, Birgitta Rabe, Dieter Wolke, Kim Overvad, Anne Tjønneland, Francoise Clavel-Chapelon, Rudolf Kaaks, Heiner Boeing, Antonia Trichopoulou, Pietro Ferrari, Domenico Palli, Vittorio Krogha, Salvatore Panico, Rosario Tuminoa, Giuseppe Matullo, Jolanda M.A. Boer, Yvonne T. van der Schouw, Elisabete Weiderpass, J. Ramón Quirós, María‐José Sánchez, Carmen Navarro, Conchi Moreno‐Iribas, Larraitz Arriola, Olle Melander, Patrik Wennberg, Timothy J. Key, Elio Ríboli, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Phil Beales, Jamie Bentham, Shoumo Bhattacharyaa, Ewan Birney, Douglas Blackwooda, Martin Bobrow, Patrick Bolton, Chris Boustred, Gerome Breen, Mattia Calissanoa, Keren Carss, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampia, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Coccaa, David Collier, Catherine Cosgrove, Tony Coxa

    出版 2017
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  5. 5
    Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

    Low-frequency variation in TP53 has large effects on head circumference and intracranial volume 由 Simon Haworth, Chin Yang Shapland, Caroline Hayward, Bram P. Prins, Janine F. Felix, Carolina Medina‐Gómez, Fernando Rivadeneira, Carol A. Wang, Tarunveer S. Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, Andrew P. Jackson, Louise Cleal, Jennifer Huffmann, Josine L. Min, Lærke Sass, Paul R. H. J. Timmers, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Cocca, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Petr Danecek, Ian N. M. Day, Aaron Day-Williams, Anna F. Dominiczak, Thomas A. Down, Yuanping Du, Ian Dunham, Richard Durbin, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evans, I. Sadaf Farooqi, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Matthias Geihs, Daniel Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Bryan Howie, Jie Huang, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, David K. Jackson

    出版 2019
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  6. 6
    Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study

    Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study 由 Lucinda Teoh, Ameenat Lola Solebo, Jugnoo S. Rahi, Joe Abbott, Wajda Abdullah, Gill Adams, Louise Allen, Christopher M. Anderson, Karen Ansell, Samira Anwar, Isabel M Ash, Jane Ashworth, Sher A. Aslam, Majunath Astagi, Colin Ball, Rajesh Balu, Victoria Barrett, Z. Bassi, Adam Bates, Dushyant Batra, Sarah Bell, Linda Belmour, James Benzimra, Ginny Birrell, Susmito Biswas, Andrew Blaikie, M S J Blundell, Kate Bolton, Ewoud Bos, Pamela G. Bowen, Richard Bowman, Natalie Boyle, John Bradbury, Maria Bredow, Marsel Bregu, Nicholas Brennan, Rosie Brennan, Paul Brittain, Charles Buchanan, Catey Bunce, Howard Bunting, Priscilla Burgess, Cathie Burke, Alexandra Kate Bush, Jeremy Butcher, Lucilla Butler, Clare Cane, Cathryn Chadwick, Ruth Charlton, Anne‐Marie Childs, Jessy Choi, Vivi Choleva, A Churchill, Michael W. Clarke, Peter Clayton, Luke Clifford, Alan Connor, Rachel Cox, Lyn Cresswell, Annegret Dahlmann‐Noor, Angela D’Amore, Mehul Dattani, Fiona Dean, Anita Devlin, Luna Dhir, Cora Doherty, S E Dorey, Fiona Drimmie, Tina Duke, Gordon N. Dutton, F.B. Eaton, Megan Eaton, Danielle Eckersley, Clive Edelsten, Rachel Elderkin, Julia Ennis, J A Escardó-Paton, Ziad Estephen, Onajite Etuwewe, Anthony Evans, Adjoa Ezekwe, Jenny Fairfield, Kevin Falzon, Allison Ferguson, Brian W. Fleck, Mary Gainsborough, Alexandra Galloway, Naomi Gerson-Sofer, Caspar Gibbon, Patricia Gibson, Kevin C. W. Goss, Katherine Graham-Evans, Judith Gray, Anna Gregory, Arun Gulati, Deniz Gurtin-Zorkun, Emma Guy, Diab Haddad, Helen R. Haggerty, P M Haigh

    出版 2021
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