检索结果 - Frances Bu’Lock
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Medical education and training within congenital cardiology: current global status and future directions in a post COVID-19 world 由 Colin J. McMahon, Justin T. Tretter, Andrew N. Redington, Frances Bu’Lock, Liesl Zühlke, Ruth Heying, Sandra da Silva Mattos, Raman Kumar, Jeffrey P. Jacobs, Jonathan Windram
出版 2021Revisão -
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Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations 由 Javier T Granados-Riveron, Mark Pope, Frances Bu’Lock, Christopher Thornborough, Jacqueline Eason, Kerry Setchfield, Ami Ketley, Edwin P. Kirk, Diane Fatkin, Michael P. Feneley, Richard P. Harvey, J. David Brook
出版 2011Artigo -
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α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects 由 Javier T Granados-Riveron, Tushar K. Ghosh, Mark Pope, Frances Bu’Lock, Christopher Thornborough, Jacqueline Eason, Edwin P. Kirk, Diane Fatkin, Michael P. Feneley, Richard P. Harvey, John A.L. Armour, J. David Brook
出版 2010Artigo -
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Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects 由 Jennifer England, Javier T Granados-Riveron, Luis Polo‐Parada, Diji Kuriakose, Chris Moore, J. David Brook, Catrin S. Rutland, Kerry Setchfield, Chris Gell, Tushar K. Ghosh, Frances Bu’Lock, Christopher Thornborough, Elisabeth Ehler, Siobhan Loughna
出版 2017Artigo -
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Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times 由 Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen V. Firth, Andrew R. Gennery, Anthony Holland, C Illingworth, Nigel Mercer, Merel M. Pannebakker, Andrew Parry, Anne C. Roberts, Beverly Tsai‐Goodman
出版 2014Artigo -
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Alpha-cardiac actin mutations produce atrial septal defects 由 Hans Matsson, Jacqueline Eason, Carol S. Bookwalter, Joakim Klar, Peter Gustavsson, Jan Sunnegårdh, Henrik Enell, Anders Jonzon, Miikka Vikkula, Ilse Gutierrez, Javier T Granados-Riveron, Mark Pope, Frances Bu’Lock, I. Jane Cox, Thelma Robinson, Feifei Song, J. David Brook, Steven B. Marston, Kathleen M. Trybus, Niklas Dahl
出版 2007Artigo -
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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls 由 Rachel Soemedi, Ana Töpf, Ian Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, J. David Brook, Javier T Granados-Riveron, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, Koenraad Devriendt, Jeroen Breckpot, Michael Hofbeck, Mark Lathrop, Anita Rauch, Gillian M. Blue, David S. Winlaw, Matthew E. Hurles, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney
出版 2011Artigo -
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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease 由 Rachel Soemedi, Ian Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zélénika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier T Granados-Riveron, Gillian M. Blue, Jeroen Breckpot, Stephen Hellens, Simon Zwolinkski, Elise Glen, Chrysovalanto Mamasoula, Thahira Rahman, Darroch Hall, Anita Rauch, Koenraad Devriendt, Marc Gewillig, John O’ Sullivan, David S. Winlaw, Frances Bu’Lock, J. David Brook, Shoumo Bhattacharya, Mark Lathrop, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney
出版 2012Artigo -
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Patient-reported quality of life outcomes for children with serious congenital heart defects 由 Rachel L Knowles, Thomas G. Day, Angela Wade, Catherine Bull, Christopher Wren, Carol Dezateux, Satish Adwani, Frances Bu’Lock, Benjamin M. Craig, Piers E.F. Daubeney, Graham Derrick, Michael Elliott, R. T. D. Franklin, John D. Gibbs, Brian L. Knight, Jue Tao Lim, Alan Magee, Richard M. Martin, Preston R. Miller, Shakeel A. Qureshi, Eben L. Rosenthal, Anthony P. Salmon, Ian Sullivan, Pradip Thakker, James A. Thomson, Dirk G. Wilson, Alex Wong
出版 2014Artigo -
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Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot 由 Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Richard M. Monaghan, Elisavet Fotiou, Heather J. Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, J. David Brook, Kerry Setchfield, Frances Bu’Lock, John O’Sullivan, Graham Stuart, Connie R. Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martín Baron, Sanjeev S. Bhaskar, Graeme Black, William G. Newman, Kathryn E. Hentges, G.M. Lathrop, Mauro Santibanez‐Koref, Bernard Keavney
出版 2019Artigo -
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Apixaban for Prevention of Thromboembolism in Pediatric Heart Disease 由 R. Mark Payne, Kristin M. Burns, Andrew C. Glatz, Christoph Male, Andrea Donti, Leonardo R. Brandão, Gunter Balling, Christina VanderPluym, Frances Bu’Lock, Lazaros Kochilas, Brigitte Stiller, James F. Cnota, Otto Rahkonen, Asra Khan, Rachele Adorisio, Șerban Stoica, Lindsay J. May, Jane C. Burns, José Francisco Kerr Saraiva, Kimberly E. McHugh, John S. Kim, Agustin Rubio, Nadia G. Chía-Vazquez, Marcie R. Meador, Joshua L. Dyme, Alison M. Reedy, Antoinette Ajavon‐Hartmann, Praneeth Jarugula, Lauren E. Carlson-Taneja, Donna Mills, Olivia Wheaton, Paul Monagle
出版 2023Artigo -
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Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot 由 Heather J. Cordell, Ana Töpf, Chrysovalanto Mamasoula, Alex V. Postma, Jamie Bentham, Diana Zélénika, Simon Heath, Gillian M. Blue, Catherine Cosgrove, Javier T Granados-Riveron, Rebecca Darlay, Rachel Soemedi, Ian Wilson, Kristin L. Ayers, Thahira Rahman, Diana Hall, Barbara J.M. Mulder, Aeilko H. Zwinderman, Klaartje van Engelen, J. David Brook, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, John O’Sullivan, Graham Stuart, J M Parsons, Shoumo Bhattacharya, David S. Winlaw, Seema Mital, Marc Gewillig, Jeroen Breckpot, Koenraad Devriendt, Antoon F.M. Moorman, Anita Rauch, G.M. Lathrop, Bernard Keavney, JA Goodship
出版 2013Artigo -
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Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 由 Heather J. Cordell, Jamie Bentham, Ana Töpf, Diana Zélénika, Simon Heath, Chrysovalanto Mamasoula, Catherine Cosgrove, Gillian M. Blue, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, Jeroen Breckpot, Rachel Soemedi, Ruairidh Martin, Thahira Rahman, Darroch Hall, Klaartje van Engelen, Antoon F.M. Moorman, A. H. Zwinderman, Phil Barnett, Tamara T. Koopmann, Michiel Adriaens, András Varró, Alfred L. George, C. Dos Remedios, Nanette H. Bishopric, Connie R. Bezzina, John O’Sullivan, Marc Gewillig, Frances Bu’Lock, David S. Winlaw, Shoumo Bhattacharya, Koenraad Devriendt, J. David Brook, Barbara J.M. Mulder, Seema Mital, Alex V. Postma, G.M. Lathrop, Martin Farrall, Judith A. Goodship, Bernard Keavney
出版 2013Artigo -
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans 由 Saeed Al Turki, Ashok Kumar Manickaraj, Catherine L. Mercer, Sebastian S. Gerety, Marc‐Phillip Hitz, Sarah Lindsay, Lisa C.A. D’Alessandro, G. Jawahar Swaminathan, Jamie Bentham, Anne-Karin Arndt, Jacoba Louw, Jeroen Breckpot, Marc Gewillig, Bernard Thienpont, Hashim Abdul‐Khaliq, Christine Harnack, Kirstin Hoff, Hans-Heiner Kramer, Stephan Schubert, Reiner Siebert, Okan Toka, Catherine Cosgrove, Hugh Watkins, Anneke Lucassen, Anne M. Kelly, Anthony P. Salmon, Frances Bu’Lock, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, J. David Brook, Barbara J.M. Mulder, Sabine Klaassen, Shoumo Bhattacharya, Koenraad Devriendt, David Fitzpatrick, David I. Wilson, Seema Mital, Matthew E. Hurles
出版 2014Artigo -
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing 由 Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy F. McRae, Tomas Fitzgerald, Tarjinder Singh, G. Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul‐Khaliq, Siddharth Banka, Ulrike Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu’Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba Louw, Ashok Kumar Manickara, Dorin Manase, Karen McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury‐Ecob, Seham Osman Babiker Omer, Willem H. Ouwehand, Soo‐Mi Park, Michael Parker, Thomas Pickardt, Martin Pollard, Leema Robert, David J. Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E.F. Daubeney, Bernard Keavney, Judith Goodship, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Koenraad Devriendt, David Fitzpatrick, J. David Brook, Matthew E. Hurles
出版 2016Artigo -
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Edoxaban for Thromboembolism Prevention in Pediatric Patients With Cardiac Disease 由 Michael A. Portman, Jeffrey P. Jacobs, Jane W. Newburger, Felix Berger, Michael Grosso, Anil Duggal, Ben Tao, Neil A. Goldenberg, Matthew Brothers, Bradley S. Marino, Charles E. Canter, Mark E. Law, Nguyenvu Nguyen, Charlie J. Sang, Kristin Shimano, Dipankar Gupta, Michael A. Portman, Derek J. Williams, Lauren Glass, Charles Sperrazza, S. Herold, Ruchira Garg, Mark Vranicar, Sawsan Awad, Alfred Asante‐Korang, Colleen Druzgal, Caroline Ozment, Kamill Del Toro, Ferran Rosés‐Noguer, Christian Jux, Verena Gravenhorst, Ulrich Schweigmann, Mihir D. Bhatt, Christine Sabapathy, Nagib Dahdah, Dototea Bartonicek, Gerald Tulzer, Е. Н. Басаргина, T. N. Zvereva, Tatiana Pertels, I. N. Plotnikova, S.E.G.U.E.L.A. Pierre-Emmanuel, Pascal Amédro, Yves Dulac, Damien Bonnet, Paola Saraco, Alessandro Rimini, Valerii Digtiar, Margaryta Gonchar, Т.O. Kryuchko, Olga Yablon, Varinder Singh Bedi, Jashvant Patel, Monjori Mitra, Jacek Kusa, Kowalczyk Domagala, László KÖRNYEI, Csaba BERECZKI, László ABLONCZY, Vivianne Aviva Levitas, David Mishali, Shoshana Revel‐Vilk, Dan Harlev, Hatice Şaşmaz, Namık Yaşar Özbek, Şule Ünal, Türkan Patıroglu, Barış Malbora, Hasan Ağın, Zeynep Karakaş, Ramazan Kavakli, Elizabeth Chalmers, Frances Bu’Lock, Piers E.F. Daubeney, Hala Hamza, M.A. Badr, Mohsen Saleh Elalfy, Ahmed M. Mansour, Hoda Hassab, Ayman Sabry, Linda Daou, Fadi Bitar
出版 2022Artigo
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