총 309건 중 309건 출력
, 21/31 페이지
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201
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O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
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Brand, Harrison;
Zhao, Xuefang;
Fu, Jack;
Collins, Ryan;
Wong, Isaac;
Liao, Cal;
Wang, Lily;
Baxter, Samantha;
Solomonson, Matthew;
Darnowsky, Philip;
Chapman, Siné
ad;
Stevens, Christine;
Cusick, Caroline;
Sanchis-Juan, Alba;
Walker, Mark;
Kurtas, Nehir;
Chao, Katherine;
Gabriel, Stacey;
Banks, Eric;
O’Donnell-Luria, Anne;
MacArthur, Daniel;
Rehm, Heidi;
Neale, Benjamin;
Daly, Mark;
Samocha, Kaitlin;
Karczewski, Konrad;
Talkowski, Michael;
;
(Genetics in medicine open,
v.2,
2024,
pp.101015)
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202
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2019 EULAR points to consider for non-physician health professionals to prevent and manage fragility fractures in adults 50 years or older
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Adams, Jo;
Wilson, Nicky;
Hurkmans, Emalie;
Bakkers, Margot;
Balá
ž
ová
, Petra;
Baxter, Mark;
Blavnsfeldt, Anne-Birgitte;
Briot, Karine;
Chiari, Catharina;
Cooper, Cyrus;
Dragoi, Razvan Gabriel;
Ga¨bler, Gabriele;
Lems, Willem;
Mosor, Erika;
Pais, Sandra;
Simon, Cornelia;
Studenic, Paul;
Tilley, Simon;
de la Torre-Aboki, Jenny;
Stamm, Tanja A;
School of Health Sciences, University of Southampton, , Southampton, UK;
School of Health Sciences, University of Southampton, , Southampton, UK;
Department Care I, Musculoskeletal System & Neurology, Dutch National Health Care Institute, , Diemen, The Netherlands;
EULAR Standing Committee of People with Arthritis/Rheumatism in Europe (PARE), , Zurich, Switzerland;
EULAR Young PARE, , Zurich, Switzerland;
Medicine for Older People, University Hospital Southampton NHS Foundation Trust, , Southampton, UK;
Department of Rheumatology, Aarhus University Hospital, , Arrhus, Denmark;
INSERM U1153, Paris Descartes University, Reference Center for Genetic Bone Diseases - Department of Rheumatology, Cochin Hospital, , Paris, France;
Department of Orthopedics and Trauma-Surgery, Medical University of Vienna, , Vienna, Austria;
MRC Lifecourse Epidemiology Unit, University of Southampton, , Southampton, UK;
Rehabilitation, Physical Medicine and Rheumatology, 'Victor Babes' University of M;
(Annals of the rheumatic diseases : the official journal,
v.80,
2021,
pp.57-64)
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203
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Stroke Outcomes in a Population‐Focused Urban Hypertension Program in Brazil and Senegal
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Jose Maria E. Ferrer;
Johannes Boch;
Ann Aerts;
Malick Anne;
Alvaro Avezum;
Joseph Barboza;
Yara Baxter;
Luiz Aparecido Bortolotto;
Daniel Cobos;
Sarah Des Rosiers;
Karina Mauro Dib;
Luciano F. Drager;
Olivia Jones;
Louise Morgan;
Kylie Picou;
Sarah Rajkumar;
Theresa Reiker;
Mariana Silveira;
Lakshmi Venkitachalam;
Peter Steinmann;
American Heart Association;
Novartis Foundation;
Novartis Foundation;
Ministère de la Santé et de l’Action Sociale;
Sociedade de Cardiologia do Estado de São Paulo;
Intrahealth;
Novartis Foundation;
Universidade de São Paulo;
University of Basel;
Novartis Foundation;
Secretaria Municipal da Saúde;
Universidade de São Paulo;
American Heart Association;
American Heart Association;
American Heart Association;
University of Basel;
Novartis Foundation;
Instituto Tellus;
American Heart Association;
University of Basel;
(Journal of the American Heart Association,
v.,
2025,
)
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204
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Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions
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Aziz, Athar;
Baxter, E Joanna;
Edwards, Carol;
Cheong, Clara Yujing;
Ito, Mitsuteru;
Bench, Anthony;
Kelley, Rebecca;
Silber, Yvonne;
Beer, Philip A;
Chng, Keefe;
Renfree, Marilyn B;
McEwen, Kirsten;
Gray, Dionne;
Nangalia, Jyoti;
Mufti, Ghulam J;
Hellstrom-Lindberg, Eva;
Kiladjian, Jean-Jacques;
McMullin, Mary Frances;
Campbell, Peter J;
Ferguson-Smith, Anne C;
Green, Anthony R;
Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute, UK;
Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute, UK;
Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, UK;
A*STAR Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine, Singapore;
Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, UK;
Department of Hematology, Addenbrooke’s Hospital, Cambridge, UK;
Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute, UK;
Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute, UK;
Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute, UK;
A*STAR Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine, Singapore;
Department of Zoology, University of Melbourne, Melbourne, Victoria, Australia;
Dep;
(Clinical epigenetics,
v.5,
2013,
pp.S5-S5)
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205
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O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
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Rehm, Heidi;
Goodrich, Julia;
Chao, Katherine;
Laricchia, Kristen;
Wilson, Michael;
Fu, Jack;
Tiao, Grace;
He, Qin;
Marten, Daniel;
Poterba, Timothy;
Vittal, Christopher;
Chen, Siwei;
Lu, Wenhan;
Baxter, Samantha;
Chapman, Siné
ad;
Cusick, Caroline;
Darnowsky, Philip;
Gauthier, Laura;
Gruenschloss, Leonhard;
Grant, Riley;
Jahl, Stephen;
Solomonson, Matthew;
Stevens, Christine;
MacArthur, Daniel;
Talkowski, Michael;
Neale, Benjamin;
O'Donnell-Luria, Anne;
Samocha, Kaitlin;
Karczewski, Konrad;
Daly, Mark;
;
(Genetics in medicine open,
v.2,
2024,
pp.101475)
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206
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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
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Francis, David I.;
Stark, Zornitza;
Scheffer, Ingrid E.;
Tan, Tiong Yang;
Murali, Krithika;
Gallacher, Lyndon;
Amor, David J.;
Goel, Himanshu;
Downie, Lilian;
Stutterd, Chloe A.;
Krzesinski, Emma I.;
Vasudevan, Anand;
Oertel, Ralph;
Petrovic, Vida;
Boys, Amber;
Wei, Vivian;
Burgess, Trent;
Dun, Karen;
Oliver, Karen L.;
Baxter, Anne;
Hackett, Anna;
Ayres, Samantha;
Lunke, Sebastian;
Kalitsis, Paul;
Wall, Meaghan;
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Melbourne, VIC Australia;
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Melbourne, VIC Australia;
University of Melbourne, Melbourne, VIC Australia;
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Melbourne, VIC Australia;
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Melbourne, VIC Australia;
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Melbourne, VIC Australia;
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Melbourne, VIC Australia;
Hunter Genetics, Waratah, NSW Australia;
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Flemington Road, Melbourne, VIC Australia;
Victorian Clinical Genetics Services, Murdoch;
(European journal of human genetics : EJHG,
v.31,
2023,
pp.521-525)
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207
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National quality indicators and policies from 15 countries leading in adult end-of-life care: a systematic environmental scan
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Virdun, Claudia;
Luckett, Tim;
Lorenz, Karl A;
Phillips, Jane;
Dunbar, Nicola;
Clapham, Sabina;
Ognenovski, Lauren;
Berghe, Paul Vanden;
Menten, Johan;
Leemans, Kathleen;
Baxter, Sharon;
Wee, Bee;
La tour, Anne De;
Silove, Lyn;
Morin, Lucas;
Onwuteaka-Philipsen, Bregje;
Francke, Anneke;
Grundy, Kate;
Dawson, Karen;
Meade, Richard;
Neo, Patricia;
Axelsson, Bertil;
Obrist, Monika;
Cheng, Sharlene SY;
Byock, Ira;
Prins, Wendy;
Meier, Diane;
Snow, Veronica;
Faculty of Health, University of Technology Sydney (UTS), Sydney, New South Wales, Australia;
Faculty of Health, University of Technology Sydney (UTS), Sydney, New South Wales, Australia;
Director, VA Palliative Care Quality Improvement Resource Center and palliative physician VA Palo Alto Healthcare System, Stanford University School of Medicine, Stanford, California, USA;
Faculty of Health, University of Technology Sydney (UTS), Sydney, New South Wales, Australia;
(BMJ supportive & palliative care,
v.8,
2018,
pp.145-154)
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208
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Erratum: Gut microbial metabolites limit the frequency of autoimmune T cells and protect against type 1 diabetes
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Mariñ
o, Eliana;
Richards, James L;
McLeod, Keiran H;
Stanley, Dragana;
Yap, Yu Anne;
Knight, Jacinta;
McKenzie, Craig;
Kranich, Jan;
Oliveira, Ana Carolina;
Rossello, Fernando J;
Krishnamurthy, Balasubramanian;
Nefzger, Christian M;
Macia, Laurence;
Thorburn, Alison;
Baxter, Alan G;
Morahan, Grant;
Wong, Lee H;
Polo, Jose M;
Moore, Robert J;
Lockett, Trevor J;
Clarke, Julie M;
Topping, David L;
Harrison, Leonard C;
Mackay, Charles R;
;
(Nature immunology,
v.18,
2017,
pp.951-951)
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209
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Erratum: Gut microbial metabolites limit the frequency of autoimmune T cells and protect against type 1 diabetes
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Mariñ
o, Eliana;
Richards, James L;
McLeod, Keiran H;
Stanley, Dragana;
Yap, Yu Anne;
Knight, Jacinta;
McKenzie, Craig;
Kranich, Jan;
Oliveira, Ana Carolina;
Rossello, Fernando J;
Krishnamurthy, Balasubramanian;
Nefzger, Christian M;
Macia, Laurence;
Thorburn, Alison;
Baxter, Alan G;
Morahan, Grant;
Wong, Lee H;
Polo, Jose M;
Moore, Robert J;
Lockett, Trevor J;
Clarke, Julie M;
Topping, David L;
Harrison, Leonard C;
Mackay, Charles R;
;
(Nature immunology,
v.18,
2017,
pp.1271-1271)
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210
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Iron homeostasis governs erythroid phenotype in Polycythemia Vera
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Bennett Cavan;
Jackson Victoria E;
Pettikiriarachchi Anne;
Hayman Thomas;
Schaeper Ute;
Moir-Meyer Gemma L;
Fielding Katherine Louise;
Ataide Ricardo;
Clucas Danielle;
Baldi Andrew James;
Garnham Alexandra L;
Li-Wai-Suen Connie SN;
Loughran Stephen John;
Baxter E Joanna;
Green Anthony R;
Alexander Warren S;
Bahlo Melanie;
Burbury Kate;
Ng Ashley P;
Pasricha Sant-Rayn;
Department of Medical Biology, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia;
The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia;
Silence Therapeutics GmbH, Berlin, Germany;
Department of Medical Biology, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
Department of Infectious Diseases, Peter Doherty Institute, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
University of Cambridge, Cambridge, United Kingdom;
University of Cambridge, Cambridge, United Kingdom;
University of Cambridge, Cambridge, United Kingdom;
Department of Medical Biology, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
Peter MacCallum Cancer Centre;
Department of Medical Biology, University of Melbourne, Australia;
Department of Medical Biology, University of Melbourne, Australia;
(Blood,
v.,
2023,
)