Որոնման արդյունքները - Emma Burkitt‐Wright

  • Ցուցադրվում են 1 - 14 արդյունքները 14
Հստակեցնել արդյունքները
  1. 1
    Doctors' communication of trust, care, and respect in breast cancer: qualitative study

    Doctors' communication of trust, care, and respect in breast cancer: qualitative study ‌ Emma Burkitt Wright, Christopher Holcombe, Peter Salmon

    Հրապարակվել է 2004
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  2. 2
    Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts

    Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts ‌ Victoria Dunnett-Kane, Emma Burkitt‐Wright, Fiona Blackhall, Angeliki Malliri, D. Gareth Evans, Colin R. Lindsay

    Հրապարակվել է 2020
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Revisão
    Պահել ցուցակում
    Պահպանված է:
  3. 3
    Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/<scp>MAPK</scp> pathway

    Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/<scp>MAPK</scp> pathway ‌ Shruti Garg, Ami Brooks, Amy Burns, Emma Burkitt‐Wright, Bronwyn Kerr, Susan Huson, Richard Emsley, Jonathan Green

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  4. 4
    Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

    Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance ‌ Jill Clayton‐Smith, Sarah Walters, Emma Hobson, Emma Burkitt‐Wright, Rupert Smith, Annick Toutain, Jeanne Amiel, Stanislas Lyonnet, Sahar Mansour, David Fitzpatrick, Roberto Ciccone, Ivana Ricca, Orsetta Zuffardi, Dian Donnai

    Հրապարակվել է 2008
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  5. 5
    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

    ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components ‌ Marianne Rohrbach, Helen Spencer, Louise F. Porter, Emma Burkitt‐Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al‐Hussain, Matthias R. Baumgartner, Beat Steinmann, Graeme Black, Forbes D.C. Manson, Cecilia Giunta

    Հրապարակվել է 2013
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  6. 6
    Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

    Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in... ‌ D. Gareth Evans, Naomi L. Bowers, Emma Burkitt‐Wright, Emma Miles, Shruti Garg, Vilka Scott-Kitching, Miranda Penman-Splitt, Angus Dobbie, Elizabeth Howard, J. Ealing, G. Vassalo, A. Wallace, William G. Newman, SM Huson

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  7. 7
    Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues

    Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues ‌ Katherine A. Rauen, Susan Huson, Emma Burkitt‐Wright, D. Gareth Evans, Said Farschtschi, Rosalie E. Ferner, David H. Gutmann, C. Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F. Parada, Michael A. Patton, Juha Peltonen, Nancy Ratner, Vincent M. Riccardi, Thijs van der Vaart, Miikka Vikkula, David Viskochil, Martin Zenker, Meena Upadhyaya

    Հրապարակվել է 2014
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  8. 8
    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome

    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome ‌ Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, Emma Burkitt‐Wright, Hilary C. Martin, Matteo P. Ferla, John Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton‐Brown, Ruth Newbury‐Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D. Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, Edward Blair, Jenny C. Taylor, Helen Stewart

    Հրապարակվել է 2019
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  9. 9
    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

    A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder ‌ Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli, Vivien Nguyen, Jessica Gereis, Dimuthu Alankarage, David Chitayat, Karen Chong, Ingrid M. Wentzensen, Catherine Vincent‐Delorme, Alban Lermine, Emma Burkitt‐Wright, Weizhen Ji, Lauren Jeffries, Lynn Pais, Tiong Yang Tan, James Pitt, C. Wise, Helen Wright, Israel D. Andrews, Brianna Pruniski, Theresa A. Grebe, Nicole Corsten‐Janssen, Katelijne Bouman, Cathryn Poulton, Supraja Prakash, Boris Keren, Natasha J. Brown, Matthew F. Hunter, Oliver Heath, Saquib A. Lakhani, John McDermott, David B. Ascher, Gavin Chapman, Kayleigh Bozon, Sally L. Dunwoodie

    Հրապարակվել է 2024
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  10. 10
    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1

    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 ‌ Jannath Begum Ali, Luke Mason, Tony Charman, Mark H. Johnson, Jonathan Green, Shruti Garg, Emily J. Jones, Mary Agyapong, Tessel Bazelmans, Leila Dafner, Mutluhan Ersoy, Teodora Gliga, Amy Goodwin, Rianne Haartsen, Hanna Halkola, Alexandra Hendry, Rebecca Holman, Sarah Kalwarowsky, Anna Kolesnik, Sarah Lloyd‐Fox, Nisha Narvekar, Laura Pirazzoli, Chloë Taylor, Grace Vassallo, Emma Burkitt‐Wright, Judith Eelloo, D. Gareth Evans, Siobhan West, Eileen Hupton, Lauren Lewis, Louise Robinson, Angus Dobbie, Ruth Drimer, Saghira Malik Sharif, Rachel Jones, Susan Musson, Catherine Prem, Miranda Splitt, Karen Horridge, Diana Baralle, Carolyn Redman, Helen Tomkins

    Հրապարակվել է 2025
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  11. 11
    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis ‌ Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Simone Martinelli, Marion Strullu, Eyad K. Fansa, Aurélie Caye, Alessandro De Luca, Francesca Romana Lepri, Radovan Dvorský, Luca Pannone, Stefano Paolacci, S.-C. Zhang, V. Fodale, Gianfranco Bocchinfuso, Cesare Rossi, Emma Burkitt‐Wright, Andrea Farrotti, Emilia Stellacci, Serena Cecchetti, Rosangela Ferese, Lisabianca Bottero, S. Castro, Odile Fenneteau, Benoît Brethon, Massimo Sanchez, Amy E. Roberts, Helger G. Yntema, I. van der Bürgt, Paola Cianci, M.-L. Bondeson, M. Cristina Digilio, Giuseppe Zampino, Briedgeen Kerr, Y. Aoki, Mignon L. Loh, Antonio Palleschi, Elia Di Schiavi, Alessandra Carè, Angelo Selicorni, Bruno Dallapiccola, Ion Cristian Cirstea, Lorenzo Stella, Martin Zenker, Bruce D. Gelb, Hélène Cavé, Mohammad Reza Ahmadian, Marco Tartaglia

    Հրապարակվել է 2014
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  12. 12
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation ‌ Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    Հրապարակվել է 2023
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  13. 13
    The sixth international RASopathies symposium: Precision medicine—From promise to practice

    The sixth international RASopathies symposium: Precision medicine—From promise to practice ‌ Karen W. Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M. Bennett, Susan Blasér, Amanda Brown, Rebecca D. Burdine, Emma Burkitt‐Wright, Pau Castel, Sandra Darilek, Alwyn Dias, Tuesdi Dyer, Michelle Ellis, Gregg Erickson, Bruce D. Gelb, Tamar Green, Andrea M. Gross, A.Y. Ho, James Lloyd Holder, Shinichi Inoue, Angie C. Jelin, Annie Kennedy, Richard C. Klein, Maria I. Kontaridis, Pilar Magoulas, Darryl B. McConnell, Frank McCormick, Benjamin G. Neel, Carlos E. Prada, Katherine A. Rauen, Amy E. Roberts, Pablo Rodriguez‐Viciana, Neal Rosen, Gavin Rumbaugh, Anna Sablina, Maja Šolman, Marco Tartaglia, Angelica Thomas, William C. Timmer, Kartik Venkatachalam, Karin S. Walsh, Pamela L. Wolters, Jae‐Sung Yi, Martin Zenker, Nancy Ratner

    Հրապարակվել է 2019
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:
  14. 14
    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 ‌ Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը
    Artigo
    Պահել ցուցակում
    Պահպանված է:

Որոնման գործիքներ: