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1Academic Journal
المؤلفون: Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.
مصطلحات موضوعية: 14-3-3 binding, gain-of-function, Histone deacetylase 4, intellectual disability
Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/33537682/; Wakeling, E. et al. (2021) ‘Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.’, HGG advances, 2(1), p. 100015. doi:10.1016/j.xhgg.2020.100015.; https://rde.dspace-express.com/handle/11287/621938; HGG advances; PMC7841527
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2Academic Journal
المؤلفون: Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand
المساهمون: National Institutes of Health
المصدر: The American Journal of Human Genetics ; volume 108, issue 5, page 929-941 ; ISSN 0002-9297
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3Academic Journal
المؤلفون: Krumm, Anton, Madisen, Linda, Yang, Xiang-Jiao, Goodman, Richard, Nakatani, Yoshihiro, Groudine, Mark
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1998 Nov 01. 95(23), 13501-13506.
URL الوصول: https://www.jstor.org/stable/46715
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4Academic Journal
المؤلفون: Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A., Agre, Katherine E., Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L., Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A., Wagner, Monisa D., Hale, Rebecca J., Esber, Natacha, Riley, Alan F., Solomon, Benjamin D., Cho, Megan T., McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K., Mendelsohn, Bryce A., Porter, Hillary M., Lanpher, Brendan C., Lewis, Andrea M., Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M., Yang, Xiang-Jiao
المصدر: SCIENCE ADVANCES ; ISSN: 2375-2548
مصطلحات موضوعية: Medicine and Health Sciences, REGULATOR BRPF1, HBO1 ACETYLTRANSFERASE, MUTATIONS, GENE, ACETYLATION, RECOGNITION, EXPRESSION, GENOME, H3K14, KAT6B
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8667623; http://hdl.handle.net/1854/LU-8667623; http://dx.doi.org/10.1126/sciadv.aax0021; https://biblio.ugent.be/publication/8667623/file/8667625
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5Academic Journal
المؤلفون: Humbert, Jonathan, Salian, Smrithi, Makrythanasis, Periklis, Lemire, Gabrielle, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Alasiri, Rami, Bottani, Armand, Hanquinet, Sylviane, Beaver, Erin, Heeley, Jennifer, Smith, Ann C.M., Berger, Seth I., Antonarakis, Stylianos E., Yang, Xiang-Jiao, Côté, Jacques, Campeau, Philippe M.
المساهمون: Fonds de Recherche du Québec - Santé, Canada Research Chairs, Canadian Institutes of Health Research, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
المصدر: The American Journal of Human Genetics ; volume 107, issue 3, page 564-574 ; ISSN 0002-9297
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6Academic Journal
المؤلفون: Tahmasebi, Soroush, Jafarnejad, Seyed Mehdi, Tam, Ingrid S., Gonatopoulos-Pournatzis, Thomas, Matta-Camacho, Edna, Tsukumo, Yoshinori, Yanagiya, Akiko, Li, Wencheng, Atlasi, Yaser, Caron, Maxime, Braunschweig, Ulrich, Pearl, Dana, Khoutorsky, Arkady, Gkogkas, Christos G., Nadon, Robert, Bourque, Guillaume, Yang, Xiang-Jiao, Tian, Bin, Stunnenberg, Hendrik G., Yamanaka, Yojiro, Blencowe, Benjamin J., Giguère, Vincent, Sonenberg, Nahum
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2016 Nov 01. 113(44), 12360-12367.
URL الوصول: https://www.jstor.org/stable/26472283
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7Academic Journal
المؤلفون: Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, Mcwalter, Kirsty, Blackburn, Patrick, Sanders, Stephan, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy, Kini, Usha, Joss, Shelagh, Lippe, Charlotte von Der, Gordon, Christopher, Humberson, Jennifer, Robak, Laurie, A, Scott, Daryl, Sutton, Vernon, R., Skraban, Cara, Johnston, Jennifer, Poduri, Anna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica, Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri, Kvarnung, Malin, Lally, Kevin, Kulch, Peggy, Daniels, Brina, García, Andres, Stong, Nicholas, Mcgaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer, Klee, Eric, Sapp, Julie, Zyskind, Jacob, Holla, Øystein, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind, Løvold, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, A, Nordgren, Ann, A, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini, Dewan, Tammie, Coban Akdemir, Zeynep, Telegrafi, Aida, Zackai, Elaine, Begtrup, Amber, Song, Xiaofei, Toutain, Ann, Wentzensen, Ingrid, Odent, Sylvie, Bonneau, Dominique, Latypova, Xenia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine, Pichurin, Pavel, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie, Lowenstein, Dan, Posey, Jennifer, Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill, A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Redon, Richard, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James, R, Goldstein, David, Eichler, Evan, E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe
المساهمون: ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Sainte Justine Montréal, Université du Québec à Montréal = University of Québec in Montréal (UQAM), University of Oxford, GeneDx Gaithersburg, MD, USA, Mayo Clinic Rochester, University of California San Francisco (UC San Francisco), University of California (UC), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Etablissement Français du Sang Bretagne, EFS, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST), Johns Hopkins University School of Medicine Baltimore, Kennedy Krieger Institute Baltimore, Chapel Allerton Hospital, University of British Columbia Canada (UBC), University of Dundee, Rush University Medical Center Chicago, Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital (Glasgow), Trondheim University, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Virginia, Texas Children's Hospital Houston, USA, Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania, National Human Genome Research Institute (NHGRI), Harvard Medical School Boston (HMS), Karolinska University Hospital Stockholm, Duke University Medical Center, University of Groningen Groningen, University of Arkansas for Medical Sciences (UAMS), McGovern Medical School Houston, Texas, The University of Texas Health Science Center at Houston (UTHealth), Phoenix Children's Hospital, Columbia University New York, University of Southern Queensland (USQ), Telemark Hospital Trust Skien, Norway, University of Washington Seattle, Oslo University Hospital Oslo, Children’s Hospital of Philadelphia (CHOP), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Radboud University Medical Center Nijmegen, Ann & Robert H. Lurie Children's Hospital of Chicago, Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Centre de référence Maladies Rares CLAD-Ouest Rennes, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), University of Alberta, Boston Children's Hospital, McGill University Health Center Montreal (MUHC), Hôpital Morvan - CHRU de Brest (CHU - BREST), Creighton University School of Medicine, Howard Hughes Medical Institute Boston (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School Boston (HMS), National Institute of Neurological Disorders and Stroke, K08 HG008986, National Human Genome Research Institute, NS053998, The Epilepsy Phenome/Genome Project, NS077303, Epi4K, Duke Genome Sequencing Clinic, NINDS R35 NS105078, National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development, HG200328 12, intramural research program of the NHGRI, Dart NeuroScience, Kids Brain Health Network, Mining for Miracles, UM1 HG006542, National Heart, Lung, and Blood Institute, CIM Investigative and Functional Genomics Program, BC Children’s Hospital Foundation, R01MH101221, National Institute of Mental Health, Genome British Columbia, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Center for Individualized Medicine, Mayo Clinic, Health Regional Agency from Poitou-Charentes, French Ministry of Health, RC14_0107, HUGODIMS
المصدر: ISSN: 0002-9297.
مصطلحات موضوعية: neurodevelopmental disorders, intellectual disability, TRRAP, autism spectrum disorder, congenital malformations, de novo variants, histone acetylation, [SDV.GEN]Life Sciences [q-bio]/Genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/30827496; PUBMED: 30827496
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8Academic Journal
المؤلفون: Li, Lin, Jin, Jianliang, Yang, Xiang-Jiao
المساهمون: Canadian Institutes of Health Research, Natural Sciences and Engineering Research Council of Canada, Cancer Research Society, China Scholarship Council, McGill University, CIHR, Jiangsu Government Scholarship
المصدر: iScience ; volume 20, page 148-167 ; ISSN 2589-0042
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9Academic Journal
المؤلفون: Yan, Kezhi, Mousavi, Negar, Yang, Xiang‐Jiao
المصدر: Current Protocols ; volume 3, issue 5 ; ISSN 2691-1299 2691-1299
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10Academic Journal
المؤلفون: Bagheri, Hooman, Friedman, Hana, Shao, Harry, Chong, Yumaine, Lo, Chiu-An, Emran, Farida, Kays, Ibrahim, Yang, Xiang-Jiao, Cooper, Ellis, Chen, Brian E., Siminovitch, Katherine, Peterson, Alan
المصدر: The CRISPR Journal ; volume 1, issue 3, page 223-229 ; ISSN 2573-1599 2573-1602
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11Academic Journal
المؤلفون: Han, Zhen, Wu, Hong, Kim, Sunjoo, Yang, Xiangkun, Li, Qianjin, Huang, He, Cai, Houjian, Bartlett, Michael G., Dong, Aiping, Zeng, Hong, Brown, Peter J., Yang, Xiang-jiao, Arrowsmith, Cheryl H., Zhao, Yingming, Zheng, Y. George
المساهمون: National Science Foundation (NSF), U.S. Department of Defense, National Institutes of Health
المصدر: Journal of Biological Chemistry ; volume 293, issue 9, page 3410-3420 ; ISSN 0021-9258
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12Academic Journal
المؤلفون: Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T. R., Stegmann, Alexander P. A., Robak, Laurie, Scaglia, Fernando, Thi Tuyet Mai Nguyen, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W. E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
المصدر: Yan , K , Rousseau , J , Littlejohn , R O , Kiss , C , Lehman , A , Rosenfeld , J A , Stumpel , C T R , Stegmann , A P A , Robak , L , Scaglia , F , Thi Tuyet Mai Nguyen , Fu , H , Ajeawung , N F , Camurri , M V , Li , L , Gardham , A , Panis , B , Almannai , M , Sacoto , M J G , Baskin , B , Ruivenkamp , C , Xia , F , ....
مصطلحات موضوعية: HEMATOPOIETIC STEM-CELLS, ZINC-FINGER PROTEIN, CAUSE GENITOPATELLAR SYNDROME, DE-NOVO MUTATIONS, CAENORHABDITIS-ELEGANS, HBO1 ACETYLTRANSFERASE, PHD FINGER, PZP DOMAIN, KAT6B, EXPRESSION
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13Academic Journal
المؤلفون: Feng, Yunpeng, Vlassis, Arsenios, Roques, Céline, Lalonde, Marie Eve, González-Aguilera, Cristina, Lambert, Jean Philippe, Lee, Sung Bau, Zhao, Xiaobei, Alabert, Constance, Johansen, Jens V., Paquet, Eric, Yang, Xiang Jiao, Gingras, Anne Claude, Côté, Jacques, Groth, Anja
المصدر: Feng , Y , Vlassis , A , Roques , C , Lalonde , M E , González-Aguilera , C , Lambert , J P , Lee , S B , Zhao , X , Alabert , C , Johansen , J V , Paquet , E , Yang , X J , Gingras , A C , Côté , J & Groth , A 2016 , ' BRPF3-HBO1 regulates replication origin activation and histone H3K14 acetylation ' , EMBO Journal , vol. 35 , no. 2 , pp. 176-192 . https://doi.org/10.15252/embj.201591293
مصطلحات موضوعية: BRPF, DNA replication, H3K14ac, HBO1, origin activation, /dk/atira/pure/subjectarea/asjc/2800/2800, name=General Neuroscience, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1300, name=General Biochemistry,Genetics and Molecular Biology, /dk/atira/pure/subjectarea/asjc/2400/2400, name=General Immunology and Microbiology
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14Academic Journal
المؤلفون: You, Linya, Li, Lin, Zou, Jinfeng, Yan, Kezhi, Belle, Jad, Nijnik, Anastasia, Wang, Edwin, Yang, Xiang-Jiao
وصف الملف: text
Relation: Journal of Clinical Investigation, Volume: 126, Issue: 9, Publication date: 2016-08-08, Pages: 3247–3262
الاتاحة: https://doi.org/10.1172/JCI80711
https://nrc-publications.canada.ca/eng/view/ft/?id=9cacff12-f201-4009-9908-4fce5f32af9a
https://nrc-publications.canada.ca/eng/view/object/?id=9cacff12-f201-4009-9908-4fce5f32af9a
https://nrc-publications.canada.ca/fra/voir/objet/?id=9cacff12-f201-4009-9908-4fce5f32af9a -
15Academic Journal
المؤلفون: Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian
المساهمون: Health Innovation Challenge Fund, Wellcome Trust Sanger Institute, Canadian Institutes of Health Research Grants, Fonds de Recherche du Québec Santé
المصدر: The American Journal of Human Genetics ; volume 99, issue 4, page 934-941 ; ISSN 0002-9297
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16Academic Journal
المؤلفون: Yan, Kezhi, You, Linya, Degerny, Cindy, Ghorbani, Mohammad, Liu, Xin, Chen, Lulu, Li, Lin, Miao, Dengshun, Yang, Xiang-Jiao
المساهمون: Canadian Institutes of Health Research, Natural Sciences and Engineering Research Council of Canada
المصدر: Journal of Biological Chemistry ; volume 291, issue 6, page 2647-2663 ; ISSN 0021-9258
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17Academic Journal
المؤلفون: Shi, Shasha, Liu, Ke, Chen, Yanheng, Zhang, Shijun, Lin, Juanyu, Gong, Chenfang, Jin, Quanwen, Yang, Xiang-Jiao, Chen, Ruichuan, Ji, Zhiliang, Han, Aidong
المساهمون: National Science Foundation of China, Project 985
المصدر: Journal of Biological Chemistry ; volume 291, issue 27, page 14363-14372 ; ISSN 0021-9258
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18Academic Journal
المؤلفون: Kim, Go-Woon, Li, Lin, Ghorbani, Mohammad, You, Linya, Yang, Xiang-Jiao
المصدر: Journal of Biological Chemistry ; volume 291, issue 48, page 25279 ; ISSN 0021-9258
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19Academic Journal
المؤلفون: You, Linya, Yan, Kezhi, Zhou, Jinfeng, Zhao, Hong, Bertos, Nicholas R., Park, Morag, Wang, Edwin, Yang, Xiang-Jiao
المساهمون: Lee, Jeannie T.
المصدر: PLOS Genetics ; volume 11, issue 3, page e1005034 ; ISSN 1553-7404
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20Academic Journal
المؤلفون: You, Linya, Yan, Kezhi, Zou, Jinfeng, Zhao, Hong, Bertos, Nicholas R., Park, Morag, Wang, Edwin, Yang, Xiang-Jiao
المصدر: PLOS Genetics ; volume 11, issue 6, page e1005329 ; ISSN 1553-7404
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