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1
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor 미리보기

학술저널

issue
ANNALS OF NEUROLOGY; AUG 7 2023, 14p.
Author
Winsvold, Bendik
Harder, Aster V. E. A.
Ran, Caroline
Chalmer, Mona
Dalmasso, Maria Carolina
Ferkingstad, Egil
Tripathi, Kumar Parijat
Bacchelli, Elena
Borte, Sigrid
Fourier, Carmen S.
Petersen, Anja H.
Vijfhuizen, Lisanne
Magnusson, Sigurdur
O'Connor, Emer
Bjornsdottir, Gyda
Happola, Paavo
Wang, Yen-Feng
Callesen, Ida
Kelderman, Tim
Gallardo, Victor J.
de Boer, Irene
Olofsgard, Felicia Jennysdotter
Heinze, Katja
Lund, Nunu
Thomas, Laurent F.
Hsu, Chia-Lin
Pirinen, Matti
Hautakangas, Heidi
Ribases, Marta
Guerzoni, Simona
Sivakumar, Prasanth
Yip, Janice
Heinze, Axel
Kucukali, Fahri B.
Ostrowski, Sisse S.
Pedersen, Ole E.
Kristoffersen, Espen S.
Martinsen, Amy E.
Artigas, Maria S.
Lagrata, Susie
Cainazzo, Maria Michela
Adebimpe, Joycee
Quinn, Olivia
Goebel, Carl E.
Cirkel, Anna
Volk, Alexander
Heilmann-Heimbach, Stefanie E.
Skogholt, Anne Heidi
Gabrielsen, Maiken E.
Wilbrink, Leopoldine A.
Danno, Daisuke
Mehta, Dwij R.
Guobjartsson, Daniel F.
Rosendaal, Frits R.
van Dijk, Ko Willems
Fronczek, Rolf A.
Wagner, Michael
Scherer, Martin
Goebel, Hartmut A.
Sleegers, Kristel
Sveinsson, Olafur
Pani, Luca
Zoli, Michele
Ramos-Quiroga, Josep A.
Dardiotis, Efthimios
Steinberg, Anna
Riedel-Heller, Steffi
Sjostrand, Christina
Thorgeirsson, Thorgeir E.
Stefansson, Hreinn
Southgate, Laura
Trembath, Richard C.
Vandrovcova, Jana
Noordam, Raymond
Paemeleire, Koen H.
Stefansson, Kari
Fann, Cathy Shen-Jang
Waldenlind, Elisabet
Tronvik, Erling
Jensen, Rigmor H.
Chen, Shih-Pin
Houlden, Henry
Terwindt, Gisela C.
Kubisch, Christian
Maestrini, Elena
Vikelis, Michail
Pozo-Rosich, Patricia
Belin, Andrea C.
Matharu, Manjit
van den Maagdenberg, Arn M. J. M.
Hansen, Thomas F.
Ramirez, Alfredo
Zwart, John-Anker
HUNT All Headache
Int Headache Genetics Consortium
Genomic Consortium
Int Consortium Cluster Headache
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Wiley-DB)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC  원문복사신청 - RISS 
3
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report 미리보기

학술저널

issue
NEW ENGLAND JOURNAL OF MEDICINE; NOV 11 2021, 385 20, p1868-p1880, 13p.
Author
Smedley, Damian
Smith, Katherine R.
Martin, Antonio
Thomas, Ellen A.
McDonagh, Ellen M.
Cipriani, Valentina
Ellingford, Jamie M.
Arno, Gavin
Tucci, Arianna
Vandrovcova, Jana
Chan, Georgia
Williams, Hywel J.
Ratnaike, Thiloka
Wei, Wei
Stirrups, Kathleen
Ibanez, Kristina
Moutsianas, Loukas
Wielscher, Matthias
Need, Anna
Barnes, Michael R.
Vestito, Letizia
Buchanan, James
Wordsworth, Sarah
Ashford, Sofie
Rehmstrom, Karola
Li, Emily
Fuller, Gavin
Twiss, Philip
Spasic-Boskovic, Olivera
Halsall, Sally
Floto, R. Andres
Poole, Kenneth
Wagner, Annette
Mehta, Sarju G.
Gurnell, Mark
Burrows, Nigel
James, Roger
Penkett, Christopher
Dewhurst, Eleanor
Graf, Stefan
Mapeta, Rutendo
Kasanicki, Mary
Haworth, Andrea
Savage, Helen
Babcock, Melanie
Reese, Martin G.
Bale, Mark
Baple, Emma
Boustred, Christopher
Brittain, Helen
de Burca, Anna
Bleda, Marta
Devereau, Andrew
Halai, Dina
Haraldsdottir, Eik
Hyder, Zerin
Kasperaviciute, Dalia
Patch, Christine
Polychronopoulos, Dimitris
Matchan, Angela
Sultana, Razvan
Ryten, Mina
Tavares, Ana L. T.
Tregidgo, Carolyn
Turnbull, Clare
Welland, Matthew
Wood, Suzanne
Snow, Catherine
Williams, Eleanor
Leigh, Sarah
Foulger, Rebecca E.
Daugherty, Louise C.
Niblock, Olivia
Leong, Ivone U. S.
Wright, Caroline F.
Davies, Jim
Crichton, Charles
Welch, James
Woods, Kerrie
Abulhoul, Lara
Aurora, Paul
Bockenhauer, Detlef
Broomfield, Alexander
Cleary, Maureen A.
Lam, Tanya
Dattani, Mehul
Footitt, Emma
Ganesan, Vijeya
Grunewald, Stephanie
Compeyrot-Lacassagne, Sandrine
Muntoni, Francesco
Pilkington, Clarissa
Quinlivan, Rosaline
Thapar, Nikhil
Wallis, Colin
Wedderburn, Lucy R.
Worth, Austen
Bueser, Teofila
Compton, Cecilia
Deshpande, Charu
Fassihi, Hiva
Haque, Eshika
Izatt, Louise
Josifova, Dragana
Mohammed, Shehla
Robert, Leema
Rose, Sarah
Ruddy, Deborah
Sarkany, Robert
Say, Genevieve
Shaw, Adam C.
Wolejko, Agata
Habib, Bishoy
Burns, Gavin
Hunter, Sarah
Grocock, Russell J.
Humphray, Sean J.
Robinson, Peter N.
Haendel, Melissa
Simpson, Michael A.
Banka, Siddharth
Clayton-Smith, Jill
Douzgou, Sofia
Hall, Georgina
Thomas, Huw B.
O'Keefe, Raymond T.
Michaelides, Michel
Moore, Anthony T.
Malka, Sam
Pontikos, Nikolas
Browning, Andrew C.
Straub, Volker
Gorman, Grainne S.
Horvath, Rita
Quinton, Richard
Schaefer, Andrew M.
Yu-Wai-Man, Patrick
Turnbull, Doug M.
McFarland, Robert
Taylor, Robert W.
O'Connor, Emer
Yip, Janice
Newland, Katrina
Morris, Huw R.
Polke, James
Wood, Nicholas W.
Campbell, Carolyn
Camps, Carme
Gibson, Kate
Koelling, Nils
Lester, Tracy
Nemeth, Andrea H.
Palles, Claire
Roy, Noemi B. A.
Sen, Arjune
Taylor, John
Cacheiro, Pilar
Jacobsen, Julius O.
Seaby, Eleanor G.
Davison, Val
Chitty, Lyn
Douglas, Angela
Naresh, Kikkeri
McMullan, Dom
Ellard, Sian
Temple, I. Karen
Mumford, Andrew D.
Wilson, Gill
Beales, Phil
Bitner-Glindzicz, Maria
Black, Graeme
Bradley, John R.
Brennan, Paul
Burn, John
Chinnery, Patrick F.
Elliott, Perry
Flinter, Frances
Houlden, Henry
Irving, Melita
Newman, William
Rahman, Shamima
Sayer, John A.
Taylor, Jenny C.
Webster, Andrew R.
Wilkie, Andrew O. M.
Ouwehand, Willem H.
Raymond, F. Lucy
Chisholm, John
Hill, Sue
Bentley, David
Scott, Richard H.
Fowler, Tom
Rendon, Augusto
Caulfield, Mark
10000 Genomes Project Pilot
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (WestLaw)  Full Text (LWW - Ovid)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
7
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. 미리보기

학술저널

issue
Brain : a journal of neurology [Brain] 2021 Mar 03; Vol. 144 (2), pp. 584-600.
Author
Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Zou Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.
Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Lauffer M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Ferla MP; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Orioli A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK.
Giess A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK.
Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK.
Beetz C; Centogene AG, Rostock, Germany.
Sedghi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Ansari B; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Barresi R; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
Basiri K; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Cortese A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Elgar G; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK.
Fernandez-Garcia MA; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
Yip J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
Gutowski N; Department of Neurology, Royal Devon and Exeter NHS Trust, Exeter, UK.
Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics Muscle Signalling Section, King's College London, London, UK.; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Lassche S; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
Lavin T; Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
Marcelis C; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Marks P; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
Medne L; Divisions of Neurology and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Moslemi AR; Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden.
Sarkozy A; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK.
Reilly MM; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK.
Millan F; GeneDx, Gaithersburg, 20877 MD, USA.
Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.
Need AC; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK.
Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK.
Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
Norwood F; Department of Neurology, King's College Hospital, London, UK.
O'Donnell M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
O'Driscoll M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Trust, Exeter, UK.
Yum SW; Division of Pediatric Neurology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA.
Brusius I; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Wunderlich G; Department of Neurology, Center for Rare Diseases Cologne, University Hospital Cologne, Cologne, Germany.
Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar.
Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Sweden.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
Taylor JC; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
DB Label
Database : MEDLINE
원문보기
Full Text (OUP)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
1 
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