학술논문
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'학술논문'
에서 검색결과 6건 | 목록
1~20
Academic Journal
Ye, Xin Cynthia; Ng, Isaiah; Seid-Karbasi, Puya; Imam, Tuhina; Lee, Cheryl E; Chen, Shirley Yu; Herman, Adam; Sharma, Balraj; Johal, Gurinder; Gu, Bobby; Wasserman, Wyeth W
JMIR Research Protocols, Vol 2, Iss 2, p e25 (2013)
Academic Journal
Zaharieva, Irina T.; Thor, Michael G.; Oates, Emily C.; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T.; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D’Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R.; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A.; Morgan, Jennifer E.; Laing, Nigel G.; Vallance, Hilary; Ruben, Peter; Hanna, Michael G.; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope; Muntoni, Francesco
Brain. Mar 01, 2016 139(3):674-691
Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy
Academic Journal
Zaharieva, Irina T.; Thor, Michael G.; Oates, Emily C.; Van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T.; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R.; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A.; Morgan, Jennifer E.; Laing, Nigel G.; Vallance, Hilary; Ruben, Peter; Hanna, Michael G.; Lewis, Suzanne; Kamsteeg, Erik Jan; Männikkö, Roope; Muntoni, Francesco
Brain
Brain, 139, Pt 3, pp. 674-91
Brain; a journal of neurology
Brain, 139, Pt 3, pp. 674-91
Brain; a journal of neurology
Academic Journal
Ye XC; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada.; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Roslin NM; The Centre for Applied Genomics, Hospital for Sick Children Research Institute, University of Toronto, Toronto, Ontario, Canada.; Paterson AD; The Centre for Applied Genomics, Hospital for Sick Children Research Institute, University of Toronto, Toronto, Ontario, Canada.; Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.; Divisions of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.; Lyons CJ; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Department of Ophthalmology and Visual Sciences, The University of British Columbia, Vancouver, British Columbia, Canada.; Pegado V; Department of Ophthalmology and Visual Sciences, The University of British Columbia, Vancouver, British Columbia, Canada.; Richmond P; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Shyr C; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Fornes O; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Han X; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada.; Higginson M; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada.; Ross CJ; Faculty of Pharmaceutical Sciences, The University of British Columbia, Vancouver, British Columbia, Canada.; Giaschi D; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Department of Ophthalmology and Visual Sciences, The University of British Columbia, Vancouver, British Columbia, Canada.; Gregory-Evans C; Department of Ophthalmology and Visual Sciences, The University of British Columbia, Vancouver, British Columbia, Canada.; Patel MS; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada wyeth@cmmt.ubc.ca mpatel@cw.bc.ca.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Wasserman WW; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, British Columbia, Canada wyeth@cmmt.ubc.ca mpatel@cw.bc.ca.; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Ye XC; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; van der Lee R; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Wasserman WW; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Causes Study; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada. Electronic address: alehman@cw.bc.ca.
Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
Academic Journal
Ye XC; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; van der Lee R; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Wasserman WW; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: wyeth@cmmt.ubc.ca.
Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
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[AR] Ye, Xin Cynthia
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