檢索結果 - Kerry Setchfield

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  1. 1
    Relevance and utility of the in-vivo and ex-vivo optical properties of the skin reported in the literature: a review [Invited]

    Relevance and utility of the in-vivo and ex-vivo optical properties of the skin reported in the literature: a review [Invited] 由 Kerry Setchfield, Alistair Gorman, Hamish Simpson, Michael G. Somekh, Amanda J. Wright

    出版 2023
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    Revisão
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  2. 2
    Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

    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 2011
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    Artigo
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  3. 3
    Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects

    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 2017
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    Artigo
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  4. 4
    Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

    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 2011
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    Artigo
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  5. 5
    Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

    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 2012
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    Artigo
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  6. 6
    Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

    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 2019
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    Artigo
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  7. 7
    Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

    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 2013
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    Artigo
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  8. 8
    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

    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 2013
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    Artigo
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  9. 9
    Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

    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 2014
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    Artigo
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  10. 10
    Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

    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 2016
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