检索结果 - Debbie Hicks
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Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH medulloblastoma: a retrospective, molecular analysis of the HIT-SIOP PNET 4 trial 由 Tobias Goschzik, Ed C. Schwalbe, Debbie Hicks, Amanda Smith, Anja zur Muehlen, Dominique Figarella‐Branger, François Doz, Stefan Rutkowski, Birgitta Lannering, Torsten Pietsch, Steven C. Clifford
出版 2018Artigo -
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Risk Prediction of the Diabetes Missing Million: Identifying Individuals at High Risk of Diabetes and Related Complications 由 Marc Evans, Angharad R. Morgan, Dipesh Patel, Ketan Dhatariya, Sharlene A. Greenwood, Philip Newland‐Jones, Debbie Hicks, Zaheer Yousef, Jim Moore, Bethany Kelly, Sarah Davies, Umesh Dashora
出版 2020Revisão -
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Biomarker-driven stratification of disease-risk in non-metastatic medulloblastoma: Results from the multi-center HIT-SIOP-PNET4 clinical trial 由 Steven C. Clifford, Birgitta Lannering, Ed C. Schwalbe, Debbie Hicks, Kieran Toole, Sarah Leigh Nicholson, Tobias Goschzik, Anja zur Mühlen, Dominique Figarella‐Branger, François Doz, Stefan Rutkowski, Göran Gustafsson, Torsten Pietsch
出版 2015Artigo -
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Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy 由 Debbie Hicks, Golara Torabi Farsani, S.H. Laval, James J. Collins, Anna Sárközy, E. Martoni, Aysha Haleem Shah, Yaqun Zou, Manuel Koch, Carsten G. Bönnemann, M. Roberts, Hanns Lochmüller, Kate Bushby, Volker Straub
出版 2013Artigo -
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Time, pattern, and outcome of medulloblastoma relapse and their association with tumour biology at diagnosis and therapy: a multicentre cohort study 由 Rebecca M. Hill, Stacey Richardson, Ed C. Schwalbe, Debbie Hicks, Janet C. Lindsey, Stephen Crosier, Gholamreza Rafiee, Yura Grabovska, Stephen B. Wharton, Thomas S. Jacques, Antony Michalski, Abhijit Joshi, Barry Pizer, Daniel Williamson, Simon Bailey, Steven C. Clifford
出版 2020Artigo -
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Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study 由 Ed C. Schwalbe, Janet C. Lindsey, Sirintra Nakjang, Stephen Crosier, Amanda Smith, Debbie Hicks, Gholamreza Rafiee, Rebecca M. Hill, Alice Iliasova, T. J. Stone, Barry Pizer, Antony Michalski, Abhijit Joshi, Stephen B. Wharton, Thomas S. Jacques, Simon Bailey, Daniel Williamson, Steven C. Clifford
出版 2017Artigo -
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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy 由 Elizabeth Harris, Ana Töpf, Rita Barresi, Judith A. Hudson, Helen Powell, James O. Tellez, Debbie Hicks, Anna Porter, Marta Bértoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Þ. Magnússon, Monkol Lek, Daniel G. MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub
出版 2017Artigo -
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Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice 由 Yaqun Zou, Daniela Zwolanek, Yayoi Izu, Shreya Gandhy, Gudrun Schreiber, Knut Brockmann, Marcella Devoto, Zuozhen Tian, Ying Hu, Guido Veit, Markus Meier, Jörg Stetefeld, Debbie Hicks, Volker Straub, Nicol C. Voermans, David E. Birk, Elisabeth R. Barton, Manuel Koch, Carsten G. Bönnemann
出版 2013Artigo -
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Medulloblastoma group 3 and 4 tumors comprise a clinically and biologically significant expression continuum reflecting human cerebellar development 由 Daniel Williamson, Ed C. Schwalbe, Debbie Hicks, Kimberly A. Aldinger, Janet C. Lindsey, Stephen Crosier, Stacey Richardson, Jack Goddard, Rebecca M. Hill, Jemma Castle, Yura Grabovska, James Hacking, Barry Pizer, Stephen B. Wharton, Thomas S. Jacques, Abhijit Joshi, Simon Bailey, Steven C. Clifford
出版 2022Artigo -
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A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy 由 Debbie Hicks, Anna Sárközy, Nuria Muelas, Katrin Koehler, Angela Huebner, Gavin Hudson, Patrick F. Chinnery, Rita Barresi, Michelle Eagle, Tuomo Polvikoski, Geoff Bailey, James Miller, Aleksandar Radunović, PJ Hughes, R.G. Roberts, Sabine Krause, Maggie C. Walter, S. Laval, Volker Straub, Hanns Lochmüller, Kate Bushby
出版 2010Artigo -
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Congenital myasthenic syndromes due to mutations in<i>ALG2</i>and<i>ALG14</i> 由 Judith Cossins, Katsiaryna Belaya, Debbie Hicks, Mustafa A. Salih, Sarah Finlayson, Nicola Carboni, Weiwei Liu, Susan Maxwell, Katarzyna Marta Zoltowska, Golara Torabi Farsani, Steven H. Laval, M.Z. Seidhamed, Peter Donnelly, David Bentley, Simon J. McGowan, Juliane Müller, Jacqueline Palace, Hanns Lochmüller, David Beeson
出版 2013Artigo -
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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance 由 Anne Katrin Lampe, Yaqun Zou, D. Sudano, Kirsty O’Brien, Debbie Hicks, Steven H. Laval, Richard Charlton, C. Jimenez‐Mallebrera, Ruoyu Zhang, Richard S. Finkel, G. Tennekoon, Gudrun Schreiber, Marjo S. van der Knaap, Harold Marks, Volker Straub, Kevin M. Flanigan, Mon‐Li Chu, Francesco Muntoni, Kate Bushby, Carsten G. Bönnemann
出版 2008Artigo -
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Natural history of pulmonary function in collagen VI-related myopathies 由 A. Reghan Foley, Susana Quijano‐Roy, James J. Collins, Volker Straub, Michelle McCallum, Nicolas Deconinck, Eugenio Mercuri, Marika Pane, Adele D’Amico, Enrico Bertini, Kathryn N. North, Monique M. Ryan, Pascale Richard, Valérie Allamand, Debbie Hicks, Shireen R. Lamandé, Ying Hu, Francesca Gualandi, Sungyoung Auh, Francesco Muntoni, Carsten G. Bönnemann
出版 2013Artigo -
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Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity 由 Yura Grabovska, Alan Mackay, Patricia O’Hare, Stephen Crosier, Martina Finetti, Ed C. Schwalbe, Jessica C. Pickles, Amy R. Fairchild, Aimee Avery, Julia Cockle, Rebecca M. Hill, Janet C. Lindsey, Debbie Hicks, Mark Kristiansen, Jane Chalker, John Anderson, Darren Hargrave, Thomas S. Jacques, Karin Straathof, Simon Bailey, Chris Jones, Steven C. Clifford, Daniel Williamson
出版 2020Artigo
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Medicine
Internal medicine
Biology
Genetics
Gene
Endocrinology
Medulloblastoma
Pathology
Mutation
Oncology
Diabetes mellitus
Cohort
Intensive care medicine
Phenotype
Disease
Muscular dystrophy
Anatomy
Biochemistry
Bioinformatics
Collagen VI
Exome sequencing
Extracellular matrix
Limb-girdle muscular dystrophy
Muscle weakness
Surgery
Compound heterozygosity
Computational biology
Environmental health
Exon
Insulin