학술논문
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'학술논문'
에서 검색결과 70건 | 목록
1~20
Academic Journal
Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G.; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A.; Iannaccone, Susan T.; Beggs, Alan H.; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta
European Journal of Human Genetics. :1-10
Academic Journal
Academic Journal
Smyth, Duncan; Mossman, Stuart; Weatherall, Mark; Jolliffe, Evan; Joshi, Purwa; Taylor, Jennifer; Thorne, Katie; Watson, Eloise; Leadbetter, Ruth; Mossman, Benjamin; Moss, Tawhai; Todd, Nicholas; Schneider, Erich
Academic Journal
Leadbetter, Ruth; MacAskill, Michael; Myall, Daniell J.; Taylor, Bruce V.; Joshi, Purwa; Mason, Deborah F.
Journal of Neurology, Neurosurgery & Psychiatry; Jul2023, Vol. 94 Issue 7, p511-517, 7p
Academic Journal
In Clinical Neurophysiology March 2020 131(3):e4-e5
Academic Journal
Mulroy, Eoin; Pelosi, Luciana ; Leadbetter, Ruth; Joshi, Purwa; Rodrigues, Miriam; Mossman, Stuart; Kilfoyle, Dean; Roxburgh, Richard
In Clinical Neurophysiology May 2018 129 Supplement 1:e167-e168
Academic Journal
Academic Journal
Alzheimer Disease & Associated Disorders. Oct 01, 2021 35(4):350-352
Academic Journal
Sagath L; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Finland.; Kiiski K; Folkhälsan Research Center, Helsinki, Finland.; Laboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Naidu K; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, United Kingdom.; Jonson PH; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Finland.; Laarne M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Finland.; Djordjevic D; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Yoon G; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.; LaGroon A; Greenville Office Greenwood Genetic Center, Greenville, SC, USA.; Rogers C; Greenville Office Greenwood Genetic Center, Greenville, SC, USA.; Galindo MK; Children's Clinics for Rehabilitative Services, Tucson, AZ, USA.; Scherer K; Department of Neurology, University of Arizona, Tucson, AZ, USA.; Kunstmann E; Praxis für Humangenetik, Julius-Maximilians-University Würzburg, Germany.; Koparir E; Institute for Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.; Ho D; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands WA 6008, Australia.; Davis M; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands WA 6008, Australia.; Joshi P; Department of Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Zygmunt A; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Finland.; Echaniz-Laguna A; Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, 94275, France.; French National Reference Center for Rare Neuropathies (CERAMIC), Le Kremlin-Bicêtre, 94275, France.; INSERM U1195, Paris-Saclay University, Le Kremlin-Bicêtre, 94276, France.; Biancalana V; Laboratoire de Diagnostic Génétique CHRU de Strasbourg, Strasbourg, France.; Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Iannaccone ST; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA.; Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Wallgren-Pettersson C; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Finland.; Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Pelin K; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Finland.; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.; Lehtokari VL; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Finland.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Mulroy, Eoin; Pelosi, Luciana; Leadbetter, Ruth; Joshi, Purwa; Rodrigues, Miriam; Mossman, Stuart; Kilfoyle, Dean; Roxburgh, Richard
Report
Joshi P; Neurology Department, Wellington Regional Hospital, Wellington, New Zealand.; Abernethy D; Neurology Department, Wellington Regional Hospital, Wellington, New Zealand.
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE
Academic Journal
Joshi, Purwa; Fink, John; Barber, Peter Alan; Davis, Alan; Lanford, Jeremy; Seymour, Andrea; Wright, Peter; Busby, Wendy; Abernethy, Ginny; Ranta, Annemarei Anna
New Zealand Medical Journal; 7/15/2016, Vol. 129 Issue 1438, p44-49, 6p
Academic Journal
New Zealand Medical Journal; 7/3/2015, Vol. 128 Issue 1417, p30-35, 6p
Academic Journal
Academic Journal
Academic Journal
Academic Journal
La Flamme AC; School of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.; Malaghan Institute of Medical Research, Wellington, New Zealand.; Abernethy D; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Sim D; Biostatistical Consulting Group, University of Otago, Wellington, New Zealand.; Goode L; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Lockhart M; Pharmaceuticol Ltd, Auckland, New Zealand.; Bourke D; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Milner I; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Garrill TM; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Joshi P; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Watson E; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Smyth D; Neurology, Wellington Regional Hospital, Wellington, New Zealand.; Lance S; Hutt Valley District Health Board, Lower Hutt, New Zealand.; Connor B; Department of Pharmacology and Clinical Pharmacology, Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
Publisher: British Medical Association Country of Publication: England NLM ID: 101775450 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-6140 (Electronic) Linking ISSN: 26326140 NLM ISO Abbreviation: BMJ Neurol Open Subsets: PubMed not MEDLINE
Academic Journal
Smyth, Duncan; Mossman, Stuart; Weatherall, Mark; Jolliffe, Evan; Taylor, Jennifer; Joshi, Purwa; Thorne, Katie; Watson, Eloise; Leadbetter, Ruth; Mossman, Benjamin; Moss, Tawhai; Schneider, Erich; Todd, Nick
Academic Journal
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