Search Results - Sue Povey

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  1. 1
    The origin of ovarian teratomas.

    The origin of ovarian teratomas. by J M Parrington, L. F. WEST, Sue Povey

    Published 1984
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  2. 2
    Species- and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice.

    Species- and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice. by Gavin Kelsey, Sue Povey, Anne E. Bygrave, Robin Lovell‐Badge

    Published 1987
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  3. 3
    Assignment of the structural gene for the third component of human complement to chromosome 19.

    Assignment of the structural gene for the third component of human complement to chromosome 19. by Alexander S. Whitehead, E. Solomon, S. R. Chambers, Walter F. Bodmer, Sue Povey, G H Fey

    Published 1982
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  4. 4
    Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

    Rare single gene disorders: estimating baseline prevalence and outcomes worldwide by Hannah Blencowe, Sowmiya Moorthie, Mary Petrou, Hanan Hamamy, Sue Povey, A.H. Bittles, Stephen Gibbons, Matthew Darlison, Bernadette Modell

    Published 2018
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  5. 5
    REPORT on the Third International Workshop on Chromosome 9

    REPORT on the Third International Workshop on Chromosome 9 by Sue Povey, John A.L. Armour, Peter Farndon, JOHN HAINES, Margaret A. Knowles, Funmilayo Eniola Olopade, Alison Pilz, D. J. KWIATKOWSKI

    Published 1994
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  6. 6
    Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

    Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. by Lesley J. Bruce, Diane L. Cope, Graham K. Jones, Ann E. Schofield, Mari‐Wyn Burley, Sue Povey, Robert J. Unwin, Albert Ong, M J A Tanner

    Published 1997
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  7. 7
    Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

    Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma by Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, Margaret Fox, Louise Ocaka, Annette Payne, Bart P. Leroy, Brian J. Clark, Roger A. Hitchings, Sue Povey, Peng T. Khaw, Shomi S. Bhattacharya

    Published 2000
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  8. 8
    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings

    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings by Luiz Gustavo Dufner‐Almeida, Santoesha Nanhoe, Andrea Zonta, Mitra Hosseinzadeh, Regina Kom‐Gortat, Peter Elfferich, Gerben Schaaf, Annegien Kenter, Daniel Kümmel, Nicola Migone, Sue Povey, Rosemary Ekong, Mark Nellist

    Published 2019
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  9. 9
    The 2014 International Workshop on Alport Syndrome

    The 2014 International Workshop on Alport Syndrome by Jeffrey H. Miner, Colin Baigent, Frances Flinter, Oliver Groß, Parminder K. Judge, Clifford E. Kashtan, Sharon Lagas, Judy Savige, Dave Blatt, Jie Ding, Daniel P. Gale, Julian Midgley, Sue Povey, Marco Prunotto, Daniel Renault, Jules Skelding, Neil Turner, Susie Gear

    Published 2014
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  10. 10
    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex

    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex by Marianne Hoogeveen‐Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, N. Lannoy, Frances Elmslie, Martina Bebin, Kira A. Dies, Catherine Thompson, Steven Sparagana, Peter Maxwell Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley, Mark Nellist

    Published 2013
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  11. 11
    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex by Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie E. Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David J. Kwiatkowski, Julian R. Sampson, C. Vidales, Jacinta Dzarir, Javier Garcı́a-Planells, Kira A. Dies, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

    Published 2011
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  12. 12
    Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide

    Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide by Sowmiya Moorthie, Hannah Blencowe, Matthew Darlison, Joy E Lawn, Joan K. Morris, Bernadette Modell, A.H. Bittles, Hannah Blencowe, Arnold L. Christianson, Simon Cousens, Matthew Darlison, Stephen Gibbons, H. Hamamy, Babak Khoshnood, C. P. Howson, Joy E Lawn, Pierpaolo Mastroiacovo, B. Modell, Sowmiya Moorthie, Joan K. Morris, Peter Mossey, Amanda J. Neville, Mary Petrou, Sue Povey, Judith Rankin, Lavínia Schüler‐Faccini, Christopher Wren, K. A. Yunnis

    Published 2018
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  13. 13
    The Human Variome Project

    The Human Variome Project by Richard G.H. Cotton, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Samuel F. Berkovic, Anthony J. Brookes, John Burn, Garry R. Cutting, Johan T. den Dunnen, Paul Flicek, Nelson B. Freimer, Marc S. Greenblatt, Heather J. Howard, Michael Katz, Finlay Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Raj Ramesar, C. Sue Richards, Daniela Seminara, Tim D. Smith, María-Jesús Sobrido, Jan Helge Solbakk, Rudolph E. Tanzi, Sean V. Tavtigian, Graham R. Taylor, Joji Utsunomiya, Michael S. Watson

    Published 2008
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  14. 14
    Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

    Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure by Markus Reichold, Enriko Klootwijk, Jörg Reinders, Edgar A. Otto, Mario Milani, Carsten Broeker, Chris Laing, J. Wiesner, Sulochana Devi, Weibin Zhou, Roland Schmitt, Ines Tegtmeier, Christina Sterner, Hannes Doellerer, Kathrin Renner, Peter J. Oefner, Katja Dettmer, Johann M.B. Simbuerger, Ralph Witzgall, Horia Stanescu, Simona Dumitriu, Daniela Iancu, Vaksha Patel, Monika Mozere, Mehmet Tekman, Graciana Jaureguiberry, Naomi Issler, Anne Kesselheim, Stephen B. Walsh, Daniel P. Gale, Alexander J. Howie, Joana Raquel Martins, Andrew M. Hall, Michael Kasgharian, Kevin O’Brien, Carlos R. Ferreira, Paldeep S. Atwal, Mahim Jain, Alexander Hammers, Geoff Charles‐Edwards, Chi‐un Choe, Dirk Isbrandt, Alberto Cebrian-Serrano, Benjamin Davies, Richard Sandford, Christopher W. Pugh, David Konecki, Sue Povey, Detlef Böckenhauer, Uta Lichter‐Konecki, William A. Gahl, Robert J. Unwin, Richard Warth, Robert Kleta

    Published 2018
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  15. 15
    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations by Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta

    Published 2013
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  16. 16
    Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

    Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference by Hope Northrup, Darcy A. Krueger, Hope Northrup, Darcy A. Krueger, Steven L. Roberds, Katie Smith, Julian R. Sampson, Bruce R. Korf, David J. Kwiatkowski, David Mowat, Mark Nellist, Hope Northrup, Sue Povey, Petrus de Vries, Anna W. Byars, David Dunn, Kevin C. Ess, Dena Hook, Anna Jansen, Bryan H. King, Mustafa Şahin, Vicky Whittemore, Elizabeth A. Thiele, E. Martina Bebin, Harry T. Chugani, Peter B. Crino, Paolo Curatolo, Greg Holmes, Rima Nabbout, Finbar O’Callaghan, James W. Wheless, Joyce Y. Wu, Thomas N. Darling, Edward W. Cowen, Elizabeth S. Gosnell, Adelaide A. Hebert, Greg Mlynarczyk, Keyomaurs Soltani, Joyce Teng, Mari Wataya‐Kaneda, Patricia M. Witman, Chris Kingswood, John J. Bissler, Klemens Budde, John C. Hulbert, Lisa M. Guay‐Woodford, Julian R. Sampson, Matthias Sauter, Bernard Zonneberg, Sergiusz Jóźwiak, Ute Bartels, Moncef Berhouma, David Neal Franz, Mary Kay Koenig, Darcy A. Krueger, E. Steve Roach, Jonathan Roth, Henry E. Wang, Howard L. Weiner, Francis X. McCormack, Khalid F. Almoosa, Alan S. Brody, Charles D. Burger, Vincent Cottin, Geraldine A. Finlay, Jennifer Glass, Elizabeth P. Henske, Simon R. Johnson, Robert M. Kotloff, D. K. Lynch, Joel Moss, Karen L. Smith, Jay Rhu, Angelo Taveira Da Silva, Lisa R. Young, Timothy K. Knilans, Robert B. Hinton, Ashwin Prakash, Robb L. Romp, Arun D. Singh, Ashish DebRoy, Pei‐Lung Chen, Steven Sparagana, Michael Frost

    Published 2013
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  17. 17
    Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

    Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference by Darcy A. Krueger, Hope Northrup, Hope Northrup, Darcy A. Krueger, Steven L. Roberds, Katie Smith, Julian R. Sampson, Bruce R. Korf, David J. Kwiatkowski, David Mowat, Mark Nellist, Hope Northrup, Sue Povey, Petrus de Vries, Anna W. Byars, David Dunn, Kevin C. Ess, Dena Hook, Anna Jansen, Bryan H. King, Mustafa Şahin, Vicky Whittemore, Elizabeth A. Thiele, E. Martina Bebin, Harry T. Chugani, Peter B. Crino, Paolo Curatolo, Greg Holmes, Rima Nabbout, Finbar O’Callaghan, James W. Wheless, Joyce Y. Wu, Thomas N. Darling, Edward W. Cowen, Elizabeth S. Gosnell, Adelaide A. Hebert, Greg Mlynarczyk, Keyomaurs Soltani, Joyce Teng, Mari Wataya‐Kaneda, Patricia M. Witman, Chris Kingswood, John J. Bissler, Klemens Budde, John C. Hulbert, Lisa M. Guay‐Woodford, Julian R. Sampson, Matthias Sauter, Bernard Zonneberg, Sergiusz Jóźwiak, Ute Bartels, Moncef Berhouma, David Neal Franz, Mary Kay Koenig, Darcy A. Krueger, E. Steve Roach, Jonathan Roth, Henry E. Wang, Howard L. Weiner, Francis X. McCormack, Khalid F. Almoosa, Alan S. Brody, Charles D. Burger, Vincent Cottin, Geraldine A. Finlay, Jennifer Glass, Elizabeth P. Henske, Simon R. Johnson, Robert M. Kotloff, D. K. Lynch, Joel Moss, Karen L. Smith, Jay Rhu, Angelo Taveira Da Silva, Lisa R. Young, Timothy K. Knilans, Robert B. Hinton, Ashwin Prakash, Robb L. Romp, Arun D. Singh, Ashish DebRoy, Pei‐Lung Chen, Steven Sparagana, Michael Frost

    Published 2013
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  18. 18
    Planning the Human Variome Project: The Spain report

    Planning the Human Variome Project: The Spain report by Jim Kaput, Richard G.H. Cotton, L Hardman, Michael S. Watson, Aida I. Al Aqeel, Jumana Y. Al‐Aama, Fahd Al‐Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge Bernstein, Jong Bhak, Stacey Bléoo, Helmut Blöcker, Steven E. Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon‐Thomsen, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun‐Jun Chung, Mireille Claustres, Garry R. Cutting, Raymond Dalgleish, Johan T. den Dunnen, Carlos Bustamante, Steven F. Dobrowolski, Rosário Santos, Rosemary Ekong, Simon B. Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, М. В. Голубенко, Marc S. Greenblatt, Ada Hamosh, John M. Hancock, Ross C. Hardison, Terence Harrison, Robert Hoffmann, Rania Horaitis, Heather J. Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong‐Young Lee, Vera Lúcia Gil‐da‐Silva‐Lopes, Finlay Macrae, Donna Maglott, Makia J. Marafie, Steven G. E. Marsh, Yoichi Matsubara, Ludwine M. Messiaen, Gabriela Möslein, Mihai G. Netea, Melissa Norton, Peter J. Oefner, William S. Oetting, James O’Leary, Ana María Oller Ramírez, Mark H. Paalman, Jillian S. Parboosingh, George P. Patrinos, Giuditta Perozzi, Ian Phillips, Sue Povey, S Prasad, Ming Qi, David J. Quin, Raj Ramesar, C. Sue Richards, Judy Savige, D. Scheible, Rodney J. Scott, Daniela Seminara, Elizabeth A. Shephard, Rolf H. Sijmons, Tim D. Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V. Tavtigian, Graham R. Taylor, Jon W. Teague, Thoralf Töpel, Mollie Ullman-Culleré, Joji Utsunomiya, Henk J. van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K. Weber, Meredith Yeager, Young Il Yeom

    Published 2009
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