Resultats de la cerca - Judith Goodship

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  1. 1
    Defects in the determination of left-right asymmetry.

    Defects in the determination of left-right asymmetry. per Miranda Splitt, John Burn, Judith Goodship

    Publicat 1996
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  2. 2
    Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

    Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. per Judith Goodship, I Cross, Peter Scambler, John Burn

    Publicat 1995
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  3. 3
    A population study of chromosome 22q11 deletions in infancy

    A population study of chromosome 22q11 deletions in infancy per Judith Goodship, I Cross, Jesse Li‐Ling, Christopher Wren

    Publicat 1998
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  4. 4
    Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

    Intellectual development in Apert's syndrome: a long term follow up of 29 patients. per M A Patton, Judith Goodship, Richard Hayward, Richard Lansdown

    Publicat 1988
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  5. 5
    DiGeorge syndrome: part of CATCH 22.

    DiGeorge syndrome: part of CATCH 22. per David I. Wilson, John Burn, Peter Scambler, Judith Goodship

    Publicat 1993
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  6. 6
    Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24

    Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 per Judith Goodship, Harinder Gill, Joan Carter, Andrew P. Jackson, Miranda Splitt, Michael Wright

    Publicat 2000
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  7. 7
    Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan.

    Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan. per Daniel McCormick, Michel van der Rest, Judith Goodship, Guillermina Lozano, Y Ninomiya, Bjørn R. Olsen

    Publicat 1987
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  8. 8
    Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

    Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. per John Burn, Atsuyoshi Takao, David I. Wilson, I Cross, Kazuo Momma, R Wadey, Peter Scambler, Judith Goodship

    Publicat 1993
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  9. 9
    Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration

    Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration per Iben R. Veland, Rodrick Montjean, Lorraine Eley, Lotte B. Pedersen, Albrecht Schwab, Judith Goodship, Karsten Kristiansen, Stine F. Pedersen, Sophie Saunier, Søren T. Christensen

    Publicat 2013
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  10. 10
    Missense Mutations and Gene Interruption in <i>PROSIT240</i> , a Novel <i>TRAP240</i> -Like Gene, in Patients With Congenital Heart Defect (Transposition of the Great Arteries)

    Missense Mutations and Gene Interruption in <i>PROSIT240</i> , a Novel <i>TRAP240</i> -Like Gene, in Patients With Congenital Heart Defect (Transposition of the Great Arteries) per Nadja Muncke, Christine Jung, Heinz Rüdiger, Herbert E. Ulmer, Ralph Roeth, Annette Hubert, Elizabeth Goldmuntz, Deborah A. Driscoll, Judith Goodship, Karin Schön, Gudrun Rappold

    Publicat 2003
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  11. 11
    The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

    The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16 per Mihael H. Polymeropoulos, Susan Ide, Michael Wright, Judith Goodship, Jean Weissenbach, Reed E. Pyeritz, Elias O. da Silva, Rosa Isela Ortiz De Luna, Clair A. Francomano

    Publicat 1996
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  12. 12
    Mutations in the <i>RSK2(RPS6KA3)</i> gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation

    Mutations in the <i>RSK2(RPS6KA3)</i> gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation per Michael Field, Patrick Tarpey, J Boyle, Sarah Edkins, Judith Goodship, Ying Luo, Jennifer A. Moon, Jon W. Teague, MR Stratton, PA Futreal, Richard Wooster, FL Raymond, Gillian Turner

    Publicat 2006
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  13. 13
    Mutations in the Sarcomere Gene <i>MYH7</i> in Ebstein Anomaly

    Mutations in the Sarcomere Gene <i>MYH7</i> in Ebstein Anomaly per Alex V. Postma, Klaartje van Engelen, Judith van de Meerakker, Thahira Rahman, Susanne Probst, Marieke J.H. Baars, Ulrike Bauer, Thomas Pickardt, Silke Sperling, Felix Berger, Antoon F.M. Moorman, Barbara J.M. Mulder, Ludwig Thierfelder, Bernard Keavney, Judith Goodship, Sabine Klaassen

    Publicat 2010
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  14. 14
    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis per Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen‐Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjærgaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Katherine Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter D. Turnpenny, Bregje W.M. van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob

    Publicat 2011
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  15. 15
    Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

    Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield per Kate Thomson, Elizabeth Ormondroyd, Andrew R. Harper, Tim Dent, Karen McGuire, John Baksi, Edward Blair, Paul Brennan, Rachel Buchan, Teofila Bueser, Carolyn Campbell, Gerald Carr‐White, Stuart A. Cook, Matthew J. Daniels, Sri V. V. Deevi, Judith Goodship, Jesse B.G. Hayesmoore, Alex Henderson, Teresa M. Lamb, Sanjay Prasad, Paula Rayner-Matthews, Leema Robert, Linda Sneddon, Hannah Stark, Roddy Walsh, James S. Ware, Martin Farrall, Hugh Watkins

    Publicat 2018
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  16. 16
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families per Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    Publicat 2015
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  17. 17
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum per Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

    Publicat 2011
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  18. 18
    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 per 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

    Publicat 2016
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  19. 19
    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies per Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios

    Publicat 2023
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  20. 20
    Impact of postoperative non-steroidal anti-inflammatory drugs on adverse events after gastrointestinal surgery

    Impact of postoperative non-steroidal anti-inflammatory drugs on adverse events after gastrointestinal surgery per Stephen J. Chapman, James Glasbey, Michael E. Kelly, Chetan Khatri, Dmitri Nepogodiev, J.E.F. Fitzgerald, Aneel Bhangu, Aneel Bhangu, Ewen M. Harrison, Rachel Adams, Kirtan Patel, Chetan Khatri, A R Retchless, Malaz Elsaddig, A E Curtis, Dmitri Nepogodiev, James Glasbey, R McMahon, Devender Mittapalli, Lucie Ferguson, Sarah Gentry, C Y N Kong, Zoon Naqvi, H Amin, Stephen J. Chapman, Michael E. Kelly, Burhan Chaudhry, Josh Burke, Ian Henderson, Shaun Trecarten, J M Clements, T M Drake, Jonathan Wild, HA Venkatesh, Nelson Butters, H Ahmeidat, N Goergen, Rachel Adams, D.A.K. Black, K Robertson, Guled M. Jama, Shirley McGuire, Rebecka Ahl, T Suri, Rachel Kuo, Fiqry Fadhlillah, Harriet L. Mills, Rachel L.C. Mitchell, Judith Goodship, Mark Tan, T. Barker, Timothy Wright, Wan Mohamad Zahiruddin Wan Mohamad, Nader M. Hanna, Grant Laing, M W C Warnock, Patrick Baird-Fraser, T. Logan, Fiona Young, A Salis, R McHugh, T M Drake, Craig Hickson, Justyna Paszkiewicz, Lorraine Anderson, Declan Neeson, Midhun Mohan, Yajur Narang, T Brophy, R. Punj, Sumit R. Majumdar, Samina Kauser, Greta de Jong, E Palkhi, David Finch, A E Curtis, Harriet Mitchell, N Carter, Thevarajah Viyasar, T Sammut, Nicole Cook, Mackenzie Powell, Sylvia J. Horne, J. L. Allen, Dominic C. Marshall, Charlotte McIntyre, Dong-Hee Koh, Jing Shi, T. Reid, Nindra Armugam, Joshua Luck, Thomas Fozard, John M. O’Callaghan, Ciaran Scott Hill, V Tilliriou, Ravi Aiyer, A Yazdi, Alison Wiltshire, Emma Blower, Chelcie Jewitt

    Publicat 2014
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