학술논문
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'학술논문'
에서 검색결과 264건 | 목록
1~20
Academic Journal
Hill, M; Lewis, C; Riddington, M; Crowe, B; DeVile, C; David, AL; Semler, O; Westgren, M; Gotherstrom, C; Chitty, LS
EUROPEAN JOURNAL OF HUMAN GENETICS. 27(8):1244-1253
Academic Journal
Hill, M; Hammond, J; Sharmin, M; Lewis, C; Heath, M; Crowe, B; Gotherstrom, C; Chitty, LS; DeVile, C
DISABILITY AND HEALTH JOURNAL. 15(1):101168-101168
Academic Journal
Marom R.; Burrage L. C.; Venditti R.; Clement A.; Blanco-Sanchez B.; Jain M.; Scott D. A.; Rosenfeld J. A.; Sutton V. R.; Shinawi M.; Mirzaa G.; DeVile C.; Roberts R.; Calder A. D.; Allgrove J.; Grafe I.; Lanza D. G.; Li X.; Joeng K. S.; Lee Y. -C.; Song I. -W.; Sliepka J. M.; Batkovskyte D.; Washington M.; Dawson B. C.; Jin Z.; Jiang M. -M.; Chen S.; Chen Y.; Tran A. A.; Emrick L. T.; Murdock D. R.; Hanchard N. A.; Zapata G. E.; Mehta N. R.; Weis M. A.; Scott A. A.; Tremp B. A.; Phillips J. B.; Wegner J.; Taylor-Miller T.; Gibbs R. A.; Muzny D. M.; Jhangiani S. N.; Hicks J.; Stottmann R. W.; Dickinson M. E.; Seavitt J. R.; Heaney J. D.; Eyre D. R.; Westerfield M.; De Matteis M. A.; Lee B.
Am J Hum Genet.
Academic Journal
Durkin, A.; DeVile, C.; Arundel, P.; Bull, M.; Walsh, J.; Bishop, N.J.; Hupin, E.; Parekh, S.; Nadarajah, R.; Offiah, A.C.; Calder, A.; Brock, J.; Baker, D.; Balasubramanian, M.
Journal of Medical Genetics. 59:810-816
Academic Journal
Nguyen T. T. M.; Murakami Y.; Mobilio S.; Niceta M.; Zampino G.; Philippe C.; Moutton S.; Zaki M. S.; James K. N.; Musaev D.; Mu W.; Baranano K.; Nance J. R.; Rosenfeld J. A.; Braverman N.; Ciolfi A.; Millan F.; Person R. E.; Bruel A. -L.; Thauvin-Robinet C.; Ververi A.; DeVile C.; Male A.; Efthymiou S.; Maroofian R.; Houlden H.; Maqbool S.; Rahman F.; Baratang N. V.; Rousseau J.; St-Denis A.; Elrick M. J.; Anselm I.; Rodan L. H.; Tartaglia M.; Gleeson J.; Kinoshita T.; Campeau P. M.
The American Journal of Human Genetics. 106:484-495
Review
DISABILITY AND HEALTH JOURNAL. 12(3):340-349
Conference
1995 IEEE 45th Vehicular Technology Conference. Countdown to the Wireless Twenty-First Century Vehicular technology Vehicular Technology Conference, 1995 IEEE 45th. 2:634-638 vol.2 1995
Sagar, RL; Astrom, E; Chitty, LS; Crowe, B; David, AL; Devile, C; Forsmark, A; Franzen, V; Hermeren, G; Hill, M
BMJ OPEN. 14(6):e079767-e079767
Academic Journal
Silwal, A. ; Pitt, M. ; Phadke, R. ; Mankad, K. ; Davison, J.E. ; Rossor, A. ; DeVile, C. ; Reilly, M.M. ; Manzur, A.Y. ; Muntoni, F. ; Munot, P.
In Neuromuscular Disorders September 2018 28(9):757-765
Academic Journal
Deepa S. Rajan; Sukhleen Kour; Tyler R. Fortuna; Margot A. Cousin; Sarah S. Barnett; Zhiyv Niu; Dusica Babovic-Vuksanovic; Eric W. Klee; Brian Kirmse; Micheil Innes; Siri Lynne Rydning; Kaja K. Selmer; Magnus Dehli Vigeland; Anne Kjersti Erichsen; Andrea H. Nemeth; Francisca Millan; Catherine DeVile; Katherine Fawcett; Adrien Legendre; David Sims; Ricardo Parolin Schnekenberg; Lydie Burglen; Sandra Mercier; Somayeh Bakhtiari; Rosario Francisco-Velilla; Azman Embarc-Buh; Encarnacion Martinez-Salas; Kristen Wigby; Jerica Lenberg; Jennifer R. Friedman; Michael C. Kruer; Udai Bhan Pandey
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Academic Journal
Balasubramanian, M. ; Hurst, J. ; Brown, S. ; Bishop, N.J. ; Arundel, P. ; DeVile, C. ; Pollitt, R.C. ; Crooks, L. ; Longman, D. ; Caceres, J.F. ; Shackley, F. ; Connolly, S. ; Payne, J.H. ; Offiah, A.C. ; Hughes, D. ; Parker, M.J. ; Hide, W. ; Skerry, T.M.
In Bone January 2017 94:65-74
Academic Journal
Academic Journal
Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; McKittrick C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Ellmers R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Eggleton K; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Woodward CE; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Patel Y; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Labrum R; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Sarkozy A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Footitt E; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Davison J; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Rahman S; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Quinlivan R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. j.vandrovcova@ucl.ac.uk.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
Ververi A; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetic Unit, 1st Obstetrics-Gynaecology Department, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.; Zagaglia S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK.; Menzies L; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Baptista J; Faculty of Health, University of Plymouth, Plymouth, UK.; Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Baulac S; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Sorbonne Université, F-75013 Paris, France.; Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Lynch S; Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.; Jacques TS; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Chawla MS; Department of Neuroradiology, Oslo University Hospital, Oslo, Norway.; Heier M; Department of Clinical Neuroscience for Children, Oslo University Hospital, Oslo, Norway.; Kulseth MA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Mero IL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Våtevik AK; National Center for Epilepsy-SSE, Oslo Univeristy Hospital, Oslo, Norway.; Kraoua I; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Ben Rhouma H; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Ben Younes T; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Miladi Z; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Ben Youssef Turki I; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Jones WD; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Clement E; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Eltze C; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Mankad K; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Merve A; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Parker J; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Hoskins B; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Pressler R; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; DeVile C; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Homfray T; SW Thames Regional Genetics Service, St George's Hospital, St George's University of London, London, UK.; Kaliakatsos M; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Robinson R; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Keim SMB; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Habibi I; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK.; Hurst JA; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Academic Journal
Pal-Magdics, M.; Sarkozy, A.; McCullagh, G.; Mein, R.; Childs, A.; Longman, C.; DeVile, C.; Phadke, R.; Muntoni, F.; Matthews, E.; Munot, P.
Neuromuscular Disorders. 29:S135-S135
Academic Journal
Klein, A.; Pitt, M.C.; McHugh, J.C.; Niks, E.H.; Sewry, C.A.; Phadke, R.; Feng, L.; Manzur, A.Y.; Tirupathi, S.; DeVile, C.; Jayawant, S.; Finlayson, S.; Palace, J.; Muntoni, F.; Beeson, D.; Robb, S.A.
Neuromuscular Disorders. 23:883-891
Academic Journal
Vecchio, D.; Rodríguez Cruz, P.; Hilton-Jones, D.; Beeson, D.; Jayawant, S.; Ramdas, S.; Pitt, M.; DeVile, C.; Robb, S.; Munot, P.; Palace, J.
European Journal of Paediatric Neurology. 21:e233-e234
Academic Journal
Mercuri, E; Sewry, CA; Brown, SC; Brockington, M; Jungbluth, H; DeVile, C; Counsell, Serena; Manzur, A; Muntoni, F
Neuropediatrics. 31:186-189
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