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1تقرير
مصطلحات موضوعية: Condensed Matter - Materials Science
الوصول الحر: http://arxiv.org/abs/2404.02902Test
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2دورية أكاديمية
المؤلفون: Chen, SW, Francioli, LC, Goodrich, JK, Collins, RL, Kanai, M, Wang, QB, Alfoldi, J, Watts, NA, Vittal, C, Gauthier, LD, Poterba, T, Wilson, MW, Tarasova, Y, Phu, W, Grant, R, Yohannes, MT, Koenig, Z, Farjoun, Y, Banks, E, Donnelly, S, Gabriel, S, Gupta, N, Ferriera, S, Tolonen, C, Novod, S, Bergelson, L, Roazen, D, Ruano-Rubio, V, Covarrubias, M, Llanwarne, C, Petrillo, N, Wade, G, Jeandet, T, Munshi, R, Tibbetts, K, O'Donnell-Luria, A, Solomonson, M, Seed, C, Martin, AR, Talkowski, ME, Rehm, HL, Daly, MJ, Tiao, G, Neale, BM, MacArthur, DG, Karczewski, KJ, Abreu, M, Salinas, CAA, Ahmad, T, Albert, CM, Ardissino, D, Armean, IM, Atkinson, EG, Atzmon, G, Barnard, J, Baxter, SM, Beaugerie, L, Benjamin, EJ, Benjamin, D, Boehnke, M, Bonnycastle, LL, Bottinger, EP, Bowden, DW, Bown, MJ, Brand, H, Brant, S, Brookings, T, Bryant, S, Calvo, SE, Campos, H, Chambers, JC, Chan, JC, Chao, KR, Chapman, S, Chasman, DI, Chisholm, R, Cho, J, Chowdhury, R, Chung, MK, Chung, WK, Cibulskis, K, Cohen, B, Connolly, KM, Correa, A, Cummings, BB, Dabelea, D, Danesh, J, Darbar, D, Darnowsky, P, Denny, J, Duggirala, R, Dupuis, J, Ellinor, PT, Elosua, R, Emery, J, England, E, Erdmann, J, Esko, T, Evangelista, E, Fatkin, D, Florez, J, Franke, A, Fu, J, Farkkila, M, Garimella, K, Gentry, J, Getz, G, Glahn, DC, Glaser, B, Glatt, SJ, Goldstein, D, Gonzalez, C, Groop, L, Gudmundsson, S, Haessly, A, Haiman, C, Hall, I, Hanis, CL, Harms, M, Hiltunen, M, Holi, MM, Hultman, CM, Jalas, C, Kallela, M, Kaplan, D, Kaprio, J, Kathiresan, S, Kenny, EE, Kim, BJ, Kim, YJ, King, D, Kirov, G, Kooner, J, Koskinen, S, Krumholz, HM, Kugathasan, S, Kwak, SH, Laakso, M, Lake, N, Langsford, T, Laricchia, KM, Lehtimaki, T, Lek, M, Lipscomb, E, Loos, RJF, Lu, WH, Lubitz, SA, Luna, TT, Ma, RCW, Marcus, GM, Marrugat, J, Mattila, KM, McCarroll, S, McCarthy, MI, McCauley, JL, McGovern, D, McPherson, R, Meigs, JB, Melander, O, Metspalu, A, Meyers, D, Minikel, EV, Mitchell, BD, Mootha, VK, Naheed, A, Nazarian, S, Nilsson, PM, O'Donovan, MC, Okada, Y, Ongur, D, Orozco, L, Owen, MJ, Palmer, C, Palmer, ND, Palotie, A, Park, KS, Pato, C, Pulver, AE, Rader, D, Rahman, N, Reiner, A, Remes, AM, Rhodes, D, Rich, S, Rioux, JD, Ripatti, S, Roden, DM, Rotter, JI, Sahakian, N, Saleheen, D, Salomaa, V, Saltzman, A, Samani, NJ, Samocha, KE, Sanchis-Juan, A, Scharf, J, Schleicher, M, Schunkert, H, Schonherr, S, Seaby, EG, Shah, SH, Shand, M, Sharpe, T, Shoemaker, MB, Shyong, T, Silverman, EK, Singer-Berk, M, Sklar, P, Smith, JT, Smith, JG, Soininen, H, Sokol, H, Son, RG, Soto, J, Spector, T, Stevens, C, Stitziel, NO, Sullivan, PF, Suvisaari, J, Tai, ES, Taylor, KD, Teo, YY, Tsuang, M, Tuomi, T, Turner, D, Tusie-Luna, T, Vartiainen, E, Vawter, M, Wang, L, Wang, A, Ware, JS, Watkins, H, Weersma, RK, Weisburd, B, Wessman, M, Whiffin, N, Wilson, JG, Xavier, RJ
المصدر: Nature. 625(7993):92-100
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Heidi Rehm, Julia Goodrich, Katherine Chao, Kristen Laricchia, Michael Wilson, Jack Fu, Grace Tiao, Qin He, Daniel Marten, Timothy Poterba, Christopher Vittal, Siwei Chen, Wenhan Lu, Samantha Baxter, Sinéad Chapman, Caroline Cusick, Philip Darnowsky, Laura Gauthier, Leonhard Gruenschloss, Riley Grant, Stephen Jahl, Matthew Solomonson, Christine Stevens, Daniel MacArthur, Michael Talkowski, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Konrad Karczewski, Mark Daly
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101475- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006216Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Sticchi, Alessandro, Tatali, Concetta, Ferraro, Massimo, Khokhar, Arif A., Scoccia, Alessandra, Cereda, Alberto, Toselli, Marco, Gallo, Francesco, Laricchia, Alessandra, Mangieri, Antonio, Grigioni, Francesco, Ussia, Gian Paolo, Giannini, Francesco, Colombo, Antonio
المصدر: Sticchi , A , Tatali , C , Ferraro , M , Khokhar , A A , Scoccia , A , Cereda , A , Toselli , M , Gallo , F , Laricchia , A , Mangieri , A , Grigioni , F , Ussia , G P , Giannini , F & Colombo , A 2024 , ' Long Stent Implantation on the Left Anterior Descending Coronary Artery at a Follow-Up of More Than Five Years ' , Journal of Clinical Medicine , vol. 13 , no. 1 , 210 . https://doi.org/10.3390/jcm13010210Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3390/jcm13010210Test
https://pure.eur.nl/en/publications/7fa3decf-6b4e-45b3-8074-6232e7cef0e3Test
https://pure.eur.nl/ws/files/126115560/Long_Stent_Implantation_on_the_Left_Anterior_Descending_Coronary_Artery_at_a_Follow-Up_of_More_Than_Five_Years.pdfTest
http://www.scopus.com/inward/record.url?scp=85181877038&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker
المساهمون: Medicum, Genetics, Department of Medical and Clinical Genetics, Faculty Common Matters (Faculty of Medicine)
مصطلحات موضوعية: 1184 Genetics, developmental biology, physiology
وصف الملف: application/pdf
العلاقة: The research leading to these results has received funding from the European Community’s Seventh Framework Program (FP7/2007-2013; 2012-305121) ‘Integrated European—omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)’ (to A. Töpf, V.S., I.T.Z. and F.M.); the European Union’s Horizon 2020 research and innovation program (Solve-RD project; 779257 to A. Töpf); Muscular Dystrophy UK and Muscular Dystrophy Association US (mda577346 to F.M.); Päulon Säätiö (to M. Savarese); Academy of Finland, Sigrid Juselius Foundation (to B.U.); core funding to the Sanger Institute by the Wellcome Trust (098051 and 206194 to E.M.B.-N., J.P. and N.W.); EURO-NMD and Fundación Gemio (to J.J.V., N.M. and P.M.); Intramural Research Grant (2-5, 29-4) for Neurological and Psychiatric Disorders of NCNP and AMED (JP20ek0109490h0001 to I.N.); Inserm, CNRS, University of Strasbourg, Labex INRT (ANR-10-LABX-0030 and ANR-10-IDEX-0002-02), France Génomique (ANR-10-INBS-09) and Fondation Maladies Rares for the ‘Myocapture’ sequencing project, AFM-Téléthon (22734), the European Joint program (EJPRD2019-126 IDOLS-G and ANR-19-RAR4-0002 to J.L., X.L. and V.B.); Intramural funds from the NIH National Institute of Neurological Disorders and Stroke (to C.G.B.); the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund (to C.E.E.); PI16/00316 supported by the Instituto de Salud Carlos III (ISCIII), Madrid and the Generalitat Valenciana (grant PROMETEO/2019/075 to N.M.); Australian NHMRC Neil Hamilton Fairley Early Career Research Fellowship (GNT1090428 to E.C.O.); Starship Foundation A+7340 (to G.L.O.); Early Career Award from the Thrasher Research Fund (to S.S.); U54 HD090255 from the NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development (to A.H.B.); Wellcome Center for Mitochondrial Research (203105/Z/16/Z), the Mitochondrial Disease Patient Cohort (UK; G0800674), the Medical Research Council International Center for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Medical Research Council (MR/W019027/1), the Lily Foundation, Mito Foundation, the Pathological Society, the UK NIHR Biomedical Research Center for Ageing and Age-related Disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust and the UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children (to R.W.T.). MYO–SEQ was funded by Sanofi Genzyme, Ultragenyx, LGMD2I Research Fund, Samantha J Brazzo Foundation, LGMD2D Foundation, Kurt+Peter Foundation, Muscular Dystrophy UK and Coalition to Cure Calpain 3. Sequencing and analysis for relevant families () were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute, the National Eye Institute and the National Heart, Lung and Blood Institute under grant UM1 HG008900 and the National Human Genome Research Institute under grants U01HG0011755 and R01 HG009141. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. DNA samples for NeurOmics and MYO–SEQ were provided by the John Walton Muscular Dystrophy Research Center Biobank. This facility is supported by the NIHR Newcastle Biomedical Research Center. Newcastle University’s Electron Microscopy Research Services and equipment Hitachi HT7800 120 kV TEM microscope are funded by BBSRC grant reference BB/R013942/1.; Töpf , A , Cox , D , Zaharieva , I T , Di Leo , V , Sarparanta , J , Jonson , P H , Sealy , I M , Smolnikov , A , White , R J , Vihola , A , Savarese , M , Merteroglu , M , Wali , N , Laricchia , K M , Venturini , C , Vroling , B , Stenton , S L , Cummings , B B , Harris , E , Marini-Bettolo , C , Diaz-Manera , J , Henderson , M , Barresi , R , Duff , J , England , E M , Patrick , J , Al-Husayni , S , Biancalana , V , Beggs , A H , Bodi , I , Bommireddipalli , S , Bönnemann , C G , Cairns , A , Chiew , M T , Claeys , K G , Cooper , S T , Davis , M R , Donkervoort , S , Erasmus , C E , Fassad , M R , Genetti , C A , Grosmann , C , Jungbluth , H , Kamsteeg , E J , Lornage , X , Löscher , W N , Malfatti , E , Manzur , A , Martí , P , Mongini , T E , Muelas , N , Nishikawa , A , O’Donnell-Luria , A , Ogonuki , N , O’Grady , G L , O’Heir , E , Paquay , S , Phadke , R , Pletcher , B A , Romero , N B , Schouten , M , Shah , S , Smuts , I , Sznajer , Y , Tasca , G , Taylor , R W , Tuite , A , Van den Bergh , P , VanNoy , G , Voermans , N C , Wanschitz , J V , Wraige , E , Yoshimura , K , Oates , E C , Nakagawa , O , Nishino , I , Laporte , J , Vilchez , J J , MacArthur , D G , Sarkozy , A , Cordell , H J , Udd , B , Busch-Nentwich , E M , Muntoni , F & Straub , V 2024 , ' Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy ' , Nature Genetics , vol. 56 , no. 3 , pp. 395-407 . https://doi.org/10.1038/s41588-023-01651-0Test; ORCID: /0000-0002-2591-244X/work/157593761; ORCID: /0000-0003-2423-359X/work/157597966; http://hdl.handle.net/10138/574250Test; 1a6fd9c9-e02b-4687-8cb3-3c264e80b740; 85186444099
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6دورية أكاديمية
المؤلفون: Töpf, A, Cox, D, Zaharieva, IT, Di Leo, V, Sarparanta, J, Jonson, PH, Sealy, IM, Smolnikov, A, White, RJ, Vihola, A, Savarese, M, Merteroglu, M, Wali, N, Laricchia, KM, Venturini, C, Vroling, B, Stenton, SL, Cummings, BB, Harris, E, Marini-Bettolo, C, Diaz-Manera, J, Henderson, M, Barresi, R, Duff, J, England, EM, Patrick, J, Al-Husayni, S, Biancalana, V, Beggs, AH, Bodi, I, Bommireddipalli, S, Bönnemann, CG, Cairns, A, Chiew, M-T, Claeys, KG, Cooper, ST, Davis, MR, Donkervoort, S, Erasmus, CE, Fassad, MR, Genetti, CA, Grosmann, C, Jungbluth, H, Kamsteeg, E-J, Lornage, X, Löscher, WN, Malfatti, E, Manzur, A, Martí, P, Mongini, TE, Muelas, N, Nishikawa, A, O'Donnell-Luria, A, Ogonuki, N, O'Grady, GL, O'Heir, E, Paquay, S, Phadke, R, Pletcher, BA, Romero, NB, Schouten, M, Shah, S, Smuts, I, Sznajer, Y, Tasca, G, Taylor, RW, Tuite, A, Van den Bergh, P, VanNoy, G, Voermans, NC, Wanschitz, JV, Wraige, E, Yoshimura, K, Oates, EC, Nakagawa, O, Nishino, I, Laporte, J, Vilchez, JJ, MacArthur, DG, Sarkozy, A, Cordell, HJ, Udd, B, Busch-Nentwich, EM, Muntoni, F, Straub, V
مصطلحات موضوعية: Animals, Humans, Male, Connectin, Muscle, Skeletal, Muscular Diseases, Mutation, Zebrafish
وصف الملف: 395 - 407
العلاقة: Nat Genet; Töpf, A., Cox, D., Zaharieva, I.T. et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet 56, 395–407 (2024). https://doi.org/10.1038/s41588-023-01651-0Test; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test
الإتاحة: https://doi.org/10.1038/s41588-023-01651-0Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240Test -
7دورية أكاديمية
المؤلفون: 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, Sinéad, 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
المصدر: Genetics in Medicine Open ; volume 2, page 101475 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101475Test
https://api.elsevier.com/content/article/PII:S2949774424006216?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424006216?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Ilaria Bonaparte, Federica Fragnoli, Fabiana Gregucci, Roberta Carbonara, Fiorella Cristina Di Guglielmo, Alessia Surgo, Valerio Davì, Morena Caliandro, Giuseppe Sanfrancesco, Christian De Pascali, Alberto Aga, Chiara Indellicati, Rosalinda Parabita, Rosilda Cuscito, Pietro Cardetta, Maurizio Laricchia, Michele Antonicelli, Annarita Ciocia, Domenico Curci, Pietro Guida, Maria Paola Ciliberti, Alba Fiorentino
المصدر: Journal of Personalized Medicine, Vol 14, Iss 4, p 416 (2024)
مصطلحات موضوعية: radiotherapy, quality assurance, care path, workflow, Medicine
وصف الملف: electronic resource
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9تقرير
مصطلحات موضوعية: Condensed Matter - Materials Science
الوصول الحر: http://arxiv.org/abs/2007.01809Test
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10دورية أكاديمية
المؤلفون: Alessandro Sticchi, Concetta Tatali, Massimo Ferraro, Arif A. Khokhar, Alessandra Scoccia, Alberto Cereda, Marco Toselli, Francesco Gallo, Alessandra Laricchia, Antonio Mangieri, Francesco Grigioni, Gian Paolo Ussia, Francesco Giannini, Antonio Colombo
المصدر: Journal of Clinical Medicine, Vol 13, Iss 1, p 210 (2023)
مصطلحات موضوعية: 5-year FU, very long-term follow-up (FU), PCI, long stenting, left anterior descending, Medicine
وصف الملف: electronic resource