खोज परिणाम - Deborah Hughes

  • प्रदर्शित 1 - 18 परिणाम 18
परिणाम को परिष्कृत करें
  1. 1
    Glutamine for the treatment of vincristine-induced neuropathy in children and adolescents with cancer

    Glutamine for the treatment of vincristine-induced neuropathy in children and adolescents with cancer द्वारा Sands, Stephen, Ladas, Elena J., Kelly, Kara M., Weiner, Michael, Lin, Meiko, Ndao, Deborah Hughes, Dave, Amie, Vahdat, Linda T., Bender, Julia Glade

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    मूलपाठ
    सूची में सहेजें
    में बचाया:
  2. 2
    BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

    BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years द्वारा Lindsay B. Robertson, Helen Hanson, S. Seal, Margaret Warren-Perry, Deborah Hughes, Imran Howell, Clare Turnbull, Richard S. Houlston, Susan Shanley, Stephen A. Butler, D. Gareth Evans, Gill Ross, Diana Eccles, Andrew Tutt, Nazneen Rahman

    प्रकाशित 2012
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  3. 3
    Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

    Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer द्वारा Clare Turnbull, Elizabeth Rapley, Sheila Seal, David Pernet, Anthony Renwick, Deborah Hughes, Michelle Ricketts, Rachel Linger, Jérémie Nsengimana, Panos Deloukas, Robert Huddart, D. Timothy Bishop, Douglas F. Easton, Michael R. Stratton, Nazneen Rahman

    प्रकाशित 2010
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  4. 4
    A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

    A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK द्वारा Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley Jones, Maryam Shoai, Deborah Hughes, Ahmad Al Khleifat, Andrea Malaspina, Karen Morrison, Pamela J. Shaw, Christopher E. Shaw, Katie Sidle, Richard W. Orrell, Pietro Fratta, John Hardy, Alan Pittman, Ammar Al‐Chalabi

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  5. 5
    Extended phenotypic spectrum of <i>KIF5A</i> mutations

    Extended phenotypic spectrum of <i>KIF5A</i> mutations द्वारा Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer‐Grumbach, Stephan Züchner, Kevin Shields, Mary M. Reilly, Henry Houlden

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  6. 6
    A genome-wide association study of testicular germ cell tumor

    A genome-wide association study of testicular germ cell tumor द्वारा Elizabeth Rapley, Clare Turnbull, Ali Amin Al Olama, Emmanouil T. Dermitzakis, Rachel Linger, Robert Huddart, Anthony Renwick, Deborah Hughes, Sarah Hines, Sheila Seal, Jonathan J. Morrison, Jérémie Nsengimana, Panos Deloukas, Nazneen Rahman, D. Timothy Bishop, Douglas F. Easton, Michael R. Stratton

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  7. 7
    De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

    De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes द्वारा Nirmal Vadgama, Alan Pittman, Michael A. Simpson, Niranjanan Nirmalananthan, Robin Murray, Takeo Yoshikawa, Peter De Rijk, Elliott Rees, George Kirov, Deborah Hughes, Tomas Fitzgerald, Mark Kristiansen, Kerra Pearce, Eliza Cerveira, Qihui Zhu, Chengsheng Zhang, Charles Lee, John Hardy, Jamal Nasir

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  8. 8
    Genome-wide association study identifies five new breast cancer susceptibility loci

    Genome-wide association study identifies five new breast cancer susceptibility loci द्वारा Clare Turnbull, Shahana Ahmed, Jonathan J. Morrison, David Pernet, Anthony Renwick, Mel Maranian, Sheila Seal, Maya Ghoussaini, Sarah Hines, Catherine S. Healey, Deborah Hughes, Margaret Warren-Perry, William Tapper, Diana Eccles, D. Gareth Evans, Maartje J. Hooning, Mieke Schutte, Ans van den Ouweland, Richard S. Houlston, Gillian Ross, Cordelia Langford, Paul D.P. Pharoah, Michael R. Stratton, Alison M. Dunning, Nazneen Rahman, Douglas F. Easton

    प्रकाशित 2010
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  9. 9
    Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    Genetic and phenotypic characterization of complex hereditary spastic paraplegia द्वारा Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceição Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucía Schottlaender, Christos Proukakis, Huw R. Morris, Thomas T. Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew Singleton, John Hardy, Nicholas Wood, Patrick A. Lewis, Henry Houlden

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

    Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures द्वारा Tommy Stödberg, Amy McTague, Arnaud Ruiz, Hiromi Hirata, Juan Zhen, Philip Long, Irene Farabella, Esther Meyer, Atsuo Kawahara, Grace Vassallo, Stavros Stivaros, Magnus Bjursell, Henrik Stranneheim, Stephanie Tigerschiöld, Bengt Persson, I. Hussain Bangash, Krishna B. Das, Deborah Hughes, Nicole Lesko, Joakim Lundeberg, Rod C. Scott, Annapurna Poduri, Ingrid E. Scheffer, Holly Smith, Paul Gissen, Stéphanie Schorge, Maarten E. A. Reith, Maya Topf, Dimitri M. Kullmann, Victoria L. Harvey, Anna Wedell, Manju A. Kurian

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  11. 11
    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions द्वारा Niccolò E. Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R’Bibo, David S. Lynch, Bettina Balint, Michèl A.A.P. Willemsen, Matthew Adams, Sarah Wiethoff, Kazunori Suzuki, Ceri H. Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F. Lucy Raymond, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Chiara Barzaghi, Barbara Garavaglia, Vincenzo Salpietro, John Hardy, Alan Pittman, Henry Houlden, Manju A. Kurian, Haruhide Kimura, Lisenka E.L.M. Vissers, Nicholas Wood, Kailash P. Bhatia

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  12. 12
    Clinical and genetic characterization of leukoencephalopathies in adults

    Clinical and genetic characterization of leukoencephalopathies in adults द्वारा David S. Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lúcia Inês Macedo‐Souza, Rahul Lakshmanan, Justin Kinsella, Áine Merwick, Alexander M. Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J. Morrison, Deborah Hughes, Alan Pittman, Matilde Laurá, Mary M. Reilly, Jason D. Warren, Catherine J. Mummery, Jonathan M. Schott, Matthew Adams, Nick C. Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  13. 13
    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia द्वारा Niccolò E. Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik, Friedrich Asmus, Marthe H. R. Ludtmann, Mina Ryten, Vincent Plagnol, Ann‐Kathrin Hauser, Sara Bandrés‐Ciga, Conceição Bettencourt, Paola Forabosco, Deborah Hughes, Marc P. M. Soutar, Kathryn J. Peall, Huw R. Morris, Daniah Trabzuni, Mehmet Tekman, Horia Stanescu, Robert Kleta, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia, Ebba Lohmann, Anne Weißbach, Christine Klein, John Hardy, Alan Pittman, Thomas Foltynie, Andrey Y. Abramov, Thomas Gasser, Kailash P. Bhatia, Nicholas Wood

    प्रकाशित 2015
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  14. 14
    Mutations in ALK signaling pathways conferring resistance to ALK inhibitor treatment lead to collateral vulnerabilities in neuroblastoma cells

    Mutations in ALK signaling pathways conferring resistance to ALK inhibitor treatment lead to collateral vulnerabilities in neuroblastoma cells द्वारा Mareike Berlak, Elizabeth R. Tucker, Mathurin Dorel, Annika Winkler, Aleixandria McGearey, Elias Rodríguez-Fos, Barbara Martins Da Costa, Karen Barker, Elicia Fyle, Elizabeth Calton, Selma Eising, Kim Ober, Deborah Hughes, Eleni Koutroumanidou, Paul Carter, Reda Stankunaite, Paula Proszek, Neha Jain, Carolina Rosswog, Heathcliff Dorado García, Jan J. Molenaar, Michael Hubank, Giuseppe Barone, John Anderson, Peter Lang, Hedwig E. Deubzer, Annette Künkele, Matthias Fischer, Angelika Eggert, Charlotte Kloft, Anton G. Henssen, Michael Boettcher, Falk Hertwig, Nils Blüthgen, Louis Chesler, Johannes H. Schulte

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  15. 15
    A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations

    A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations द्वारा Sally L. George, Elisa Izquierdo, James Campbell, Eleni Koutroumanidou, Paula Proszek, Sabri Jamal, Deborah Hughes, Lina Yuan, Lynley V. Marshall, Fernando Carceller, Julia Chisholm, Sucheta Vaidya, Henry Mandeville, Paola Angelini, Ajla Wasti, Tomas Sjöberg Bexelius, Khin Thway, Susanne A. Gatz, Matthew Clarke, Bissan Al‐Lazikani, Giuseppe Barone, John Anderson, Deborah A. Tweddle, David González, Brian A. Walker, Jack Barton, Sarita Depani, Jessica Eze, Saira Waqar Ahmed, Lucas Moreno, Andrew D.J. Pearson, Janet Shipley, Chris Jones, Darren Hargrave, Thomas S. Jacques, Michael Hubank, Louis Chesler

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  16. 16
    Germline mutations in RAD51D confer susceptibility to ovarian cancer

    Germline mutations in RAD51D confer susceptibility to ovarian cancer द्वारा Chey Loveday, Clare Turnbull, Emma Ramsay, Deborah Hughes, Elise Ruark, Jessica Frankum, Georgina R. Bowden, Bolot Kalmyrzaev, Margaret Warren-Perry, Katie Snape, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Diana Eccles, D. Gareth Evans, Anthony Renwick, Sheila Seal, Christopher J. Lord, Alan Ashworth, Jorge S. Reis‐Filho, Antonis C. Antoniou, Nazneen Rahman

    प्रकाशित 2011
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  17. 17
    SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study

    SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study द्वारा Adrian M. Shields, Sian Faustini, Harriet J. Hill, Saly Al‐Taei, Chloe Tanner, Fiona Ashford, Sarita Workman, Fernando Moreira, Nisha Verma, Hollie Wagg, Gail Heritage, Naomi Campton, Zania Stamataki, Paul Klenerman, James Thaventhiran, Sarah Goddard, Sarah Johnston, Aarnoud Huissoon, Claire Bethune, Suzanne Elcombe, David M. Lowe, Smita Y. Patel, Sinisa Savic, Siobhán O. Burns, Alex Richter, Zahra Ahmed, Hollie Bancroft, Michelle Bates, Hayley Clifford, Georgina Davis, Joanne Dasgin, Mohammad Dinally, Fatima Dhalla, Elena Efstathiou, Shuayb Elkhalifa, Mark Gompels, Dan Hartland, Madeeha Hoque, Emily Heritage, Deborah Hughes, Ann Ivory, Rashmi Jain, Sinéad Kelly, Theresa McCarthy, Christopher McGee, Daniel Mullan, Hadeil Morsi, Eileen O’Grady, Shannon Page, Nicholas A. Peters, Timothy Plant, Archana Shajidevadas, Malgorzata Slowinsksa, Z Suleiman, Neal Townsend, Charlotte Trinham, Stuart Wareham, S Walder

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  18. 18
    Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

    Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis द्वारा Qiang Gang, Conceição Bettencourt, Pedro Machado, Stefen Brady, Janice L. Holton, Alan Pittman, Deborah Hughes, Estelle Healy, M. Parton, David Hilton‐Jones, Perry B. Shieh, Merrilee Needham, Christina Liang, Edmar Zanoteli, Leonardo Valente de Camargo, Boél De Paepe, Jan De Bleecker, Aziz Shaibani, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Richard J. Barohn, Mazen M. Dimachkie, Marina Mora, Renato Mantegazza, Simona Zanotti, Andrew Singleton, Michael G. Hanna, Henry Houlden, Michael G. Hanna, Henry Houlden, Pedro Machado, Qiang Gang, Conceição Bettencourt, Estelle Healy, M. Parton, Janice L. Holton, Stefen Brady, David Hilton‐Jones, Perry B. Shieh, Edmar Zanoteli, Leonardo Valente de Camargo, Boél De Paepe, Jan De Bleecker, Aziz Shaibani, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Richard J. Barohn, Mazen M. Dimachkie, April McVey, Mamatha Pasnoor, Melanie Glenn, Omar Jawdat, Jeffrey Statland, Gabrielle Rico, Marina Mora, Renato Mantegazza, Simona Zanotti, Merrilee Needham, Frank Mastaglia, Christina Liang, Marinos C. Dalakas, Angie Biba, Hector Chinoy, James B Lilleker, Janine A. Lamb, Hazel Platt, Robert G. Cooper, James Miller, Mark Roberts, Elizabeth Househam, David A. Hilton, Aditya G. Shivane, Amy Bartlett, John T. Kissel, Heidi M. Runk, Matthew Wicklund, David Saperstein, Lynette R. McKinney

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:

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