检索结果 - Edwin P. Kirk

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  1. 1
    Advances in the Genetics of Congenital Heart Disease

    Advances in the Genetics of Congenital Heart Disease 由 Gillian M. Blue, Edwin P. Kirk, Eleni Giannoulatou, Gary F. Sholler, Sally L. Dunwoodie, Richard P. Harvey, David S. Winlaw

    出版 2017
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  2. 2
    Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition

    Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition 由 Anna Richards, M. Buddles, Rosemary L. Donne, Bernard S. Kaplan, Edwin P. Kirk, Michael Venning, Christian Tielemans, Judith A. Goodship, Timothy H.J. Goodship

    出版 2001
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  3. 3
    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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  4. 4
    NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

    NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency 由 Denise M. Kirby, Renato Salemi, Canny Sugiana, Akira Ohtake, Lee Parry, Katrina M. Bell, Edwin P. Kirk, Avihu Boneh, Robert W. Taylor, Hans‐Henrik M. Dahl, Michael T. Ryan, David R. Thorburn

    出版 2004
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  5. 5
    α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

    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 2010
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  6. 6
    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

    Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II 由 M M Hermans, Dik van Leenen, Marian A. Kroos, Clare Beesley, Ans T. van der Ploeg, Hitoshi Sakuraba, Ron A. Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice M. Fletcher, N. U. Bosshard, Lina Basel‐Vanagaite, G. T. N. Besley, Arnold Reuser

    出版 2003
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  7. 7
    Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

    Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease 由 Tony Roscioli, Simon T. Cliffe, Donald B. Bloch, Christopher G. Bell, Glenda Mullan, Peter J. Taylor, Maria Sarris, Joanne Wang, Jennifer A. Donald, Edwin P. Kirk, John B. Ziegler, Ulrich Salzer, George B. McDonald, Melanie Wong, Robert Lindeman, Michael F. Buckley

    出版 2006
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  8. 8
    International perspectives on the implementation of reproductive carrier screening

    International perspectives on the implementation of reproductive carrier screening 由 Martin B. Delatycki, Fowzan S. Alkuraya, Alison D. Archibald, Carlo Castellani, Martina C. Cornel, Wayne W. Grody, Lidewij Henneman, Adonis S. Ioannides, Edwin P. Kirk, Nigel G. Laing, Anneke Lucassen, John Massie, Juliëtte Schuurmans, Meow‐Keong Thong, Irene M. van Langen, Joël Zlotogora

    出版 2019
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  9. 9
    Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

    Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry 由 Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen S. Shields, Marı́a S. Remedi, Nine Knoers, Jin‐Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften

    出版 2019
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  10. 10
    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy 由 Sushmitha Gururaj, Elizabeth E. Palmer, Garrett D. Sheehan, Tejaswi Kandula, Rebecca Macintosh, Kevin Ying, Paula Morris, Tao Jiang, Kerith‐Rae Dias, Ying Zhu, Marcel E. Dinger, Mark J. Cowley, Edwin P. Kirk, Tony Roscioli, Rani Sachdev, Michael E. Duffey, Ann Bye, Arin Bhattacharjee

    出版 2017
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  11. 11
    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

    A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration 由 Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew E. Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson

    出版 2018
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  12. 12
    Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

    Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine 由 Elizabeth E. Palmer, Jaclyn N. Hayner, Rani Sachdev, Michael Cardamone, Tejaswi Kandula, Paula Morris, Kerith‐Rae Dias, Tao Jiang, David F. Miller, Ying Zhu, Rebecca Macintosh, Marcel E. Dinger, Mark J. Cowley, Michael F. Buckley, Tony Roscioli, Ann Bye, Michael S. Kilberg, Edwin P. Kirk

    出版 2015
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  13. 13
    Dominant negative OTULIN-related autoinflammatory syndrome

    Dominant negative OTULIN-related autoinflammatory syndrome 由 Sophia Davidson, Y. Shibata, Sophie Collard, Hongyu Zheng, Klara Kong, June Sun, Pawat Laohamonthonkul, Anthony Cerra, Tobias Kratina, M. Li, Carolyn Russell, Anna van Beek, Edwin P. Kirk, Rebecca Walsh, Jubran Alqanatish, Abdullah I. Almojali, Wafaa Alsuwairi, Abdulrahman Alrasheed, Najoua Lalaoui, Paul Gray, David Komander, Seth L. Masters

    出版 2024
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  14. 14
    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders 由 Lisa Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P. Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary‐Louise Freckmann, Michelle Lipke, Rani Sachdev, David T. Miller, Michael Field, Marcel E. Dinger, Michael F. Buckley, Mark J. Cowley, Tony Roscioli

    出版 2018
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  15. 15
    Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

    Identification of clinically actionable variants from genome sequencing of families with congenital heart disease 由 Dimuthu Alankarage, Eddie Ip, Justin O. Szot, Jacob E. Munro, Gillian M. Blue, Katrina Harrison, Hartmut Cuny, Annabelle Enriquez, Michael Troup, David T. Humphreys, Meredith Wilson, Richard P. Harvey, Gary F. Sholler, Robert M. Graham, Joshua W. K. Ho, Edwin P. Kirk, Nicholas Pachter, Gavin Chapman, David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie

    出版 2018
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  16. 16
    Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy

    Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy 由 Edwin P. Kirk, Margaret Sunde, Mauro W. Costa, Scott A. Rankin, Orit Wolstein, M. Leticia Castro, Tanya L. Butler, Changbaig Hyun, Guanglan Guo, Robyn Otway, Joel P. Mackay, Leigh B. Waddell, Andrew D. Cole, Edward A.M. Duckworth, Anne Keogh, Peter S. Macdonald, Lyn R. Griffiths, Diane Fatkin, Gary F. Sholler, Aaron M. Zorn, Michael P. Feneley, David S. Winlaw, Richard P. Harvey

    出版 2007
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  17. 17
    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness 由 Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A. Lawson, Ian Andrews, Hugo Sampaio, Alexandra Johnson, Michelle A. Farrar, Michael Cardamone, David Mowat, George Elakis, William Lo, Ying Zhu, Kevin Ying, Paula Morris, Tao Jiang, Kerith‐Rae Dias, Michael F. Buckley, Marcel E. Dinger, Mark J. Cowley, Tony Roscioli, Edwin P. Kirk, Ann Bye, Rani Sachdev

    出版 2018
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  18. 18
    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome 由 Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber, Elizabeth Bhoj, A. Micheil Innes, Ryan E. Lamont, Edmond G. Lemire, Bernard N. Chodirker, Juliet Taylor, Elaine H. Zackai, D. Ross McLeod, Edwin P. Kirk, Julie Hoover‐Fong, Leah R. Fleming, Ravi Savarirayan, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Jacek Majewski, Loydie A. Jerome‐Majewska, Jillian S. Parboosingh, François Bernier

    出版 2014
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  19. 19
    Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia

    Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia 由 Caroline Michot, Laurence Hubert, Norma B. Romero, Amr S. Gouda, Asmaa Mamoune, Suja Ann Mathew, Edwin P. Kirk, Louis Viollet, Shamima Rahman, Soumeya Bekri, Heidi Peters, James M. McGill, Emma Glamuzina, Michelle A. Farrar, Maya der von Hagen, Ian E. Alexander, Brian Kirmse, Magalie Barth, Pascal Laforêt, Pascale Benlian, Arnold Münnich, Marc Jeanpierre, Orly Elpeleg, Ophry Pines, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay

    出版 2012
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  20. 20
    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) 由 Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien, Tony Roscioli, David J. Amor, Madhura Bakshi, Clara W. T. Chung, Alison Colley, Robyn V. Jamieson, Jan Liebelt, Alan Ma, Nicholas Pachter, Sulekha Rajagopalan, Anja Ravine, Meredith Wilson, Jade Caruana, Rachael Casella, Mark R. Davis, Samantha Edwards, Alison D. Archibald, Julie McGaughran, Ainsley J. Newson, Nigel G. Laing, Martin B. Delatycki

    出版 2020
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