نتائج البحث - "Robinson P.N."

1

دورية أكاديمية

Generalisable long COVID subtypes: Findings from the NIH N3C and RECOVER programmes

المساهمون: University of Arizona - Banner Health

المصدر: eBioMedicine

مصطلحات موضوعية: COVID-19, Human Phenotype Ontology, Long COVID, Machine learning, Precision medicine, Semantic similarity

العلاقة: University, Stanford, CA 94305, United States; Bonnand, R., Université Savoie Mont Blanc, CNRS, Laboratoire d'Annecy de Physique des Particules, IN2P3, Annecy, F-74000, France; Booker, P., Max Planck Institute for Gravitational Physics, Albert Einstein Institute, Hannover, D-30167, Germany, Leibniz Universität Hannover, Hannover, D-30167, Germany; Boom, B.A., Nikhef, Science Park 105, Amsterdam, 1098 XG, Netherlands; Bork, R., LIGO Laboratory, California Institute of Technology, Pasadena, CA 91125, United States; Boschi, V., INFN, Sezione di Pisa, Pisa, I-56127, Italy; Bose, N., Indian Institute of Technology Bombay, Mumbai, Powai, 400 076, India; Bose, S., Inter-University Centre for Astronomy and Astrophysics, Pune, 411007, India; Bossilkov, V., OzGrav, University of Western Australia, Crawley, WA 6009, Australia; Boudart, V., Université de Liège, Liège, B-4000, Belgium; Bouffanais, Y., Università di Padova, Dipartimento di Fisica e Astronomia, Padova, I-35131, Italy, INFN, Sezione di Padova, Padova, I-35131, Italy; Bozzi, A., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Bradaschia, C., INFN, Sezione di Pisa, Pisa, I-56127, Italy; Brady, P.R., University of Wisconsin-Milwaukee, Milwaukee, WI 53201, United States; Bramley, A., LIGO Livingston Observatory, Livingston, LA 70754, United States; Branch, A., LIGO Livingston Observatory, Livingston, LA 70754, United States; Branchesi, M., Gran Sasso Science Institute (GSSI), L'Aquila, I-67100, Italy, INFN, Laboratori Nazionali Del Gran Sasso, Assergi, I-67100, Italy; Brau, J.E., University of Oregon, Eugene, OR 97403, United States; Breschi, M., Theoretisch-Physikalisches Institut, Friedrich-Schiller-Universität Jena, Jena, D-07743, Germany; Briant, T., Laboratoire Kastler Brossel, Sorbonne Université, CNRS, ENS-Université PSL, Collège de France, Paris, F-75005, France; Briggs, J.H., SUPA, University of Glasgow, Glasgow, G12 8QQ, United Kingdom; Brillet, A., Artemis, Université Côte d'Azur, Observatoire de la Côte d'Azur, CNRS, Nice, F-06304, France; Brinkmann, M., Max Planck Institute for Gravitational Physics, Albert Einstein Institute, Hannover, D-30167, Germany, Leibniz Universität Hannover, Hannover, D-30167, Germany; Brockill, P., University of Wisconsin-Milwaukee, Milwaukee, WI 53201, United States; Brooks, A.F., LIGO Laboratory, California Institute of Technology, Pasadena, CA 91125, United States; Brooks, J., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Brown, D.D., OzGrav, University of Adelaide, Adelaide, SA 5005, Australia; Brunett, S., LIGO Laboratory, California Institute of Technology, Pasadena, CA 91125, United States; Bruno, G., Université Catholique de Louvain, Louvain-la-Neuve, B-1348, Belgium; Bruntz, R., Christopher Newport University, Newport News, VA 23606, United States; Bryant, J., University of Birmingham, Birmingham, B15 2TT, United Kingdom; Bucci, F., INFN, Sezione di Firenze, Firenze, Sesto Fiorentino, I-50019, Italy; Bulik, T., Astronomical Observatory Warsaw University, Warsaw, 00-478, Poland; Bulten, H.J., Nikhef, Science Park 105, Amsterdam, 1098 XG, Netherlands; Buonanno, A., University of Maryland, College Park, MD 20742, United States, Max Planck Institute for Gravitational Physics, Albert Einstein Institute, Potsdam, D-14476, Germany; Burtnyk, K., LIGO Hanford Observatory, Richland, WA 99352, United States; Buscicchio, R., University of Birmingham, Birmingham, B15 2TT, United Kingdom; Buskulic, D., Université Savoie Mont Blanc, CNRS, Laboratoire d'Annecy de Physique des Particules, IN2P3, Annecy, F-74000, France; Buy, C., L2IT, Laboratoire des 2 Infinis - Toulouse, Université de Toulouse, CNRS/IN2P3, UPS, Toulouse, F-31062 Cedex 9, France; Byer, R.L., Stanford University, Stanford, CA 94305, United States; Cabourn Davies, G.S., University of Portsmouth, Portsmouth, PO1 3FX, United Kingdom; Cabras, G., Dipartimento di Scienze Matematiche Informatiche e Fisiche, Università di Udine, Udine, I-33100, Italy, INFN, Sezione di Trieste, Trieste, I-34127, Italy; Cabrita, R., Université Catholique de Louvain, Louvain-la-Neuve, B-1348, Belgium; Cadonati, L., Georgia Institute of Technology, Atlanta, GA 30332, United States; Caesar, M., Villanova University, Villanova, PA 19085, United States; Cagnoli, G., Université de Lyon, Université Claude Bernard Lyon 1, CNRS, Institut Lumière Matière, Villeurbanne, F-69622, France; Cahillane, C., LIGO Hanford Observatory, Richland, WA 99352, United States; Calderón Bustillo, J., IGFAE, Universidade de Santiago de Compostela, Santiago de Compostela, 15782, Spain; Callaghan, J.D., SUPA, University of Glasgow, Glasgow, G12 8QQ, United Kingdom; Callister, T.A., Stony Brook University, Stony Brook, NY 11794, United States, Center for Computational Astrophysics, Flatiron Institute, New York, NY 10010, United States; Calloni, E., INFN, Sezione di Napoli, Complesso Universitario di Monte S. Angelo, Napoli, I-80126, Italy, Università di Napoli "federico II", Complesso Universitario di Monte S. Angelo, Napoli, I-80126, Italy; Cameron, J., OzGrav, University of Western Australia, Crawley, WA 6009, Australia; Camp, J.B., NASA Goddard Space Flight Center, Greenbelt, MD 20771, United States; Canepa, M., INFN, Sezione di Genova, Genova, I-16146, Italy, Dipartimento di Fisica, Università Degli Studi di Genova, Genova, I-16146, Italy; Canevarolo, S., Institute for Gravitational and Subatomic Physics (GRASP), Utrecht University, Princetonplein 1, Utrecht, 3584 CC, Netherlands; Cannavacciuolo, M., Dipartimento di Fisica "e.R. Caianiello", Università di Salerno, Salerno, Fisciano, I-84084, Italy; Cannon, K.C., Research Center for the Early Universe (RESCEU), University of Tokyo, Bunkyo-ku, Tokyo, 113-0033, Japan; Cao, H., OzGrav, University of Adelaide, Adelaide, SA 5005, Australia; Cao, Z., Department of Astronomy, Beijing Normal University, Beijing, 100875, China; Capocasa, E., Gravitational Wave Science Project, National Astronomical Observatory of Japan (NAOJ), Mitaka City, Tokyo, 181-8588, Japan, Université de Paris, CNRS, Astroparticule et Cosmologie, Paris, F-75006, France; Capote, E., Syracuse University, Syracuse, NY 13244, United States; Carapella, G., Dipartimento di Fisica "e.R. Caianiello", Università di Salerno, Salerno, Fisciano, I-84084, Italy, INFN, Sezione di Napoli, Gruppo Collegato di Salerno, Complesso Universitario di Monte S. Angelo, Napoli, I-80126, Italy; Carbognani, F., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Carlassara, M., Max Planck Institute for Gravitational Physics, Albert Einstein Institute, Hannover, D-30167, Germany, Leibniz Universität Hannover, Hannover, D-30167, Germany; Carlin, J.B., OzGrav, University of Melbourne, Parkville, VIC 3010, Australia; Carney, M.F., Northwestern University, Evanston, IL 60208, United States; Carpinelli, M., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy, Università Degli Studi di Sassari, Sassari, I-07100, Italy, INFN, Laboratori Nazionali Del Sud, Catania, I-95125, Italy; Carrillo, G., University of Oregon, Eugene, OR 97403, United States; Carullo, G., INFN, Sezione di Pisa, Pisa, I-56127, Italy, Università di Pisa, Pisa, I-56127, Italy; Carver, T.L., Cardiff University, Cardiff, CF24 3AA, United Kingdom; Casanueva Diaz, J., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Casentini, C., Università di Roma Tor Vergata, Roma, I-00133, Italy, INFN, Sezione di Roma Tor Vergata, Roma, I-00133, Italy; Castaldi, G., University of Sannio at Benevento, Benevento, I-82100, Italy; Caudill, S., Nikhef, Science Park 105, Amsterdam, 1098 XG, Netherlands, Institute for Gravitational and Subatomic Physics (GRASP), Utrecht University, Princetonplein 1, Utrecht, 3584 CC, Netherlands; Cavaglià, M., Missouri University of Science and Technology, Rolla, MO 65409, United States; Cavalier, F., Université Paris-Saclay, CNRS, IN2P3, IJCLab, Orsay, 91405, France; Cavalieri, R., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Cella, G., INFN, Sezione di Pisa, Pisa, I-56127, Italy; Cerdá-Durán, P., Departamento de Astronomía y Astrofísica, Universitat de València, València, Burjassot, E-46100, Spain; Cesarini, E., INFN, Sezione di Roma Tor Vergata, Roma, I-00133, Italy; Chaibi, W., Artemis, Université Côte d'Azur, Observatoire de la Côte d'Azur, CNRS, Nice, F-06304, France; Chalathadka Subrahmanya, S., Universität Hamburg, Hamburg, D-22761, Germany; Champion, E., Rochester Institute of Technology, Rochester, NY 14623, United States; Chan, C.-H., National Tsing Hua University, Hsinchu City, 30013, Taiwan; Chan, C., Research Center for the Early Universe (RESCEU), University of Tokyo, Bunkyo-ku, Tokyo, 113-0033, Japan; Chan, C.L., Chinese University of Hong Kong, NT, Shatin, Hong Kong; Chan, K., Chinese University of Hong Kong, NT, Shatin, Hong Kong; Chan, M., Department of Applied Physics, Fukuoka University, Fukuoka City, Fukuoka, Jonan, 814-0180, Japan; Chandra, K., Indian Institute of Technology Bombay, Mumbai, Powai, 400 076, India; Chang, I.P., National Tsing Hua University, Hsinchu City, 30013, Taiwan; Chanial, P., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Chao, S., National Tsing Hua University, Hsinchu City, 30013, Taiwan; Chapman-Bird, C., SUPA, University of Glasgow, Glasgow, G12 8QQ, United Kingdom; Charlton, P., OzGrav, Charles Sturt University, Wagga Wagga, NSW 2678, Australia; Chase, E.A., Northwestern University, Evanston, IL 60208, United States; Chassande-Mottin, E., Université de Paris, CNRS, Astroparticule et Cosmologie, Paris, F-75006, France; Chatterjee, C., OzGrav, University of Western Australia, Crawley, WA 6009, Australia; Chatterjee, D., Inter-University Centre for Astronomy and Astrophysics, Pune, 411007, India; Chatterjee, D., University of Wisconsin-Milwaukee, Milwaukee, WI 53201, United States; Chaturvedi, M., RRCAT, Madhya Pradesh, Indore, 452013, India; Chaty, S., Université de Paris, CNRS, Astroparticule et Cosmologie, Paris, F-75006, France; Chen, C., Department of Physics, Tamkang University, Danshui District, New Taipei City25137, Taiwan, Department of Physics and Institute of Astronomy, National Tsing Hua University, Hsinchu, 30013, Taiwan; Chen, D., Kamioka Branch, National Astronomical Observatory of Japan (NAOJ), Kamioka-cho, Hida City, Gifu, 506-1205, Japan; Chen, H.Y., LIGO Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, United States; Chen, J., National Tsing Hua University, Hsinchu City, 30013, Taiwan; Chen, K., Department of Physics, Center for High Energy and High Field Physics, National Central University, Zhongli District, Taoyuan City, 32001, Taiwan; Chen, X., OzGrav, University of Western Australia, Crawley, WA 6009, Australia; Chen, Y.-B., CaRT, California Institute of Technology, Pasadena, CA 91125, United States; Chen, Y.-R., Department of Physics, National Tsing Hua University, Hsinchu, 30013, Taiwan; Chen, Z., Cardiff University, Cardiff, CF24 3AA, United Kingdom; Cheng, H., University of Florida, Gainesville, FL 32611, United States; Cheong, C.K., Chinese University of Hong Kong, NT, Shatin, Hong Kong; Cheung, H.Y., Chinese University of Hong Kong, NT, Shatin, Hong Kong; Chia, H.Y., University of Florida, Gainesville, FL 32611, United States; Chiadini, F., INFN, Sezione di Napoli, Gruppo Collegato di Salerno, Complesso Universitario di Monte S. Angelo, Napoli, I-80126, Italy, Dipartimento di Ingegneria Industriale (DIIN), Università di Salerno, Salerno, Fisciano, I-84084, Italy; Chiang, C.-Y., Institute of Physics, Academia Sinica, Nankang, Taipei, 11529, Taiwan; Chiarini, G., INFN, Sezione di Padova, Padova, I-35131, Italy; Chierici, R., Université Lyon, Université Claude Bernard Lyon 1, CNRS, IP2I Lyon, IN2P3, UMR 5822, Villeurbanne, F-69622, France; Chincarini, A., INFN, Sezione di Genova, Genova, I-16146, Italy; Chiofalo, M.L., INFN, Sezione di Pisa, Pisa, I-56127, Italy, Università di Pisa, Pisa, I-56127, Italy; Chiummo, A., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Choudhary, R.K., OzGrav, University of Western Australia, Crawley, WA 6009, Australia; Choudhary, S., Inter-University Centre for Astronomy and Astrophysics, Pune, 411007, India; Christensen, N., Artemis, Université Côte d'Azur, Observatoire de la Côte d'Azur, CNRS, Nice, F-06304, France; Chu, Q., OzGrav, University of Western Australia, Crawley, WA 6009, Australia; Chu, Y.-K., Institute of Physics, Academia Sinica, Nankang, Taipei, 11529, Taiwan; Chua, S.S.Y., OzGrav, Australian National University, Canberra, ACT 0200, Australia; Chung, K.W., King's College London, University of London, London, WC2R 2LS, United Kingdom; Ciani, G., Università di Padova, Dipartimento di Fisica e Astronomia, Padova, I-35131, Italy, INFN, Sezione di Padova, Padova, I-35131, Italy; Ciecielag, P., Nicolaus Copernicus Astronomical Center, Polish Academy of Sciences, Warsaw, 00-716, Poland; Cieślar, M., Nicolaus Copernicus Astronomical Center, Polish Academy of Sciences, Warsaw, 00-716, Poland; Cifaldi, M., Università di Roma Tor Vergata, Roma, I-00133, Italy, INFN, Sezione di Roma Tor Vergata, Roma, I-00133, Italy; Ciobanu, A.A., OzGrav, University of Adelaide, Adelaide, SA 5005, Australia; Ciolfi, R., INFN, Sezione di Padova, Padova, I-35131, Italy, INAF, Osservatorio Astronomico di Padova, Padova, I-35122, Italy; Cipriano, F., Artemis, Université Côte d'Azur, Observatoire de la Côte d'Azur, CNRS, Nice, F-06304, France; Clara, F., LIGO Hanford Observatory, Richland, WA 99352, United States; Clark, J.A., LIGO Laboratory, California Institute of Technology, Pasadena, CA 91125, United States, Georgia Institute of Technology, Atlanta, GA 30332, United States; Clearwater, P., OzGrav, Swinburne University of Technology, Hawthorn, VIC 3122, Australia; Clesse, S., Université Libre de Bruxelles, Avenue Franklin Roosevelt, Bruxelles, 50-1050, Belgium; Cleva, F., Artemis, Université Côte d'Azur, Observatoire de la Côte d'Azur, CNRS, Nice, F-06304, France; Coccia, E., Gran Sasso Science Institute (GSSI), L'Aquila, I-67100, Italy, INFN, Laboratori Nazionali Del Gran Sasso, Assergi, I-67100, Italy; Codazzo, E., Gran Sasso Science Institute (GSSI), L'Aquila, I-67100, Italy; Cohadon, P.-F., Laboratoire Kastler Brossel, Sorbonne Université, CNRS, ENS-Université PSL, Collège de France, Paris, F-75005, France; Cohen, D.E., Université Paris-Saclay, CNRS, IN2P3, IJCLab, Orsay, 91405, France; Colleoni, M., IAC3-IEEC, Universitat de les Illes Balears, Palma de Mallorca, E-07122, Spain; Collette, C.G., Université Libre de Bruxelles, Brussels, 1050, Belgium; Colombo, A., Università Degli Studi di Milano-Bicocca, Milano, I-20126, Italy, INFN, Sezione di Milano-Bicocca, Milano, I-20126, Italy; Colpi, M., Università Degli Studi di Milano-Bicocca, Milano, I-20126, Italy, INFN, Sezione di Milano-Bicocca, Milano, I-20126, Italy; Compton, C.M., LIGO Hanford Observatory, Richland, WA 99352, United States; Constancio, M., Jr., Instituto Nacional de Pesquisas Espaciais, São José dos Campos, São Paulo12227-010, Brazil; Conti, L., INFN, Sezione di Padova, Padova, I-35131, Italy; Cooper, S.J., University of Birmingham, Birmingham, B15 2TT, United Kingdom; Corban, P., LIGO Livingston Observatory, Livingston, LA 70754, United States; Corbitt, T.R., Louisiana State University, Baton Rouge, LA 70803, United States; Cordero-Carrión, I., Departamento de Matemáticas, Universitat de València, València, Burjassot, E-46100, Spain; Corezzi, S., INFN, Sezione di Perugia, Perugia, I-06123, Italy, Università di Perugia, Perugia, I-06123, Italy; Corley, K.R., Columbia University, New York, NY 10027, United States; Cornish, N.J., Montana State University, Bozeman, MT 59717, United States; Corre, D., Université Paris-Saclay, CNRS, IN2P3, IJCLab, Orsay, 91405, France; Corsi, A., Texas Tech University, Lubbock, TX 79409, United States; Cortese, S., European Gravitational Observatory (EGO), Pisa, Cascina, I-56021, Italy; Costa, C.A., Instituto Nacional de Pesquisas Espaciais, São José dos Campos, São Paulo12227-010, Brazil; Cotesta, R., Max Planck Institute for Gravitational Physics, Albert Einstein Institute, Potsdam, D-14476, Germany; Cottingham, R., LIGO Livingston Observatory; http://hdl.handle.net/10150/670541Test; eBioMedicine

الإتاحة: https://doi.org/10.1016/j.ebiom.2022.104413Test
http://hdl.handle.net/10150/670541Test

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النص الكامل

2

دورية أكاديمية

The Human Phenotype Ontology in 2024: phenotypes around the world

المؤلفون: Gargano, M.A., Matentzoglu, N., Coleman, B., Addo-Lartey, E.B., Anagnostopoulos, A.V., Anderton, J., Avillach, P., Bagley, A.M., Bakštein, E., Balhoff, J.P., Baynam, G., Bello, S.M., Berk, M., Bertram, H., Bishop, S., Blau, H., Bodenstein, D.F., Botas, P., Boztug, K., Čady, J., Callahan, T.J., Cameron, R., Carbon, S.J., Castellanos, F., Caufield, J.H., Chan, L.E., Chute, C.G., Cruz-Rojo, J., Dahan-Oliel, N., Davids, J.R., Dieuleveult, M. de, Souza, V. de, Vries, B.B.A. de, Vries, E. de, DePaulo, J.R., Derfalvi, B., Dhombres, F., Diaz-Byrd, C., Dingemans, A.J.M., Donadille, B., Duyzend, M., Elfeky, R., Essaid, S., Fabrizzi, C., Fico, G., Firth, H.V., Freudenberg-Hua, Y., Fullerton, J.M., Gabriel, D.L., Gilmour, K., Giordano, J., Goes, F.S., Moses, R.G., Green, I., Griese, M., Groza, T., Gu, W., Guthrie, J., Gyori, B., Hamosh, A., Hanauer, M., Hanušová, K., He, Yong, Hegde, H., Helbig, I., Holasová, K., Hoyt, C.T., Huang, S., Hurwitz, E., Jacobsen, J.O., Jiang, X, Joseph, L., Keramatian, K., King, B., Knoflach, K., Koolen, D.A., Kraus, M.L., Kroll, C., Kusters, M., Ladewig, M.S., Lagorce, D., Lai, M.C., Lapunzina, P., Laraway, B., Lewis-Smith, D., Li, Xiarong, Lucano, C., Majd, M., Marazita, M.L., Martinez-Glez, V., McHenry, T.H., McInnis, M.G., McMurry, J.A., Mihulová, M., Millett, C.E., Mitchell, P.B., Moslerová, V., Narutomi, K., Nematollahi, S., Nevado, J., Haendel, M.A., Robinson, P.N.

المصدر: Nucleic Acids Research, 52, D1, pp. D1333-d1346

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/305172Test

الإتاحة: https://doi.org/10.1093/nar/gkad1005Test
https://repository.ubn.ru.nl/handle/2066/305172Test

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3

دورية أكاديمية

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

المؤلفون: Rehm, H.L., Page, AJH, Smith, L., Adams, J.B., Alterovitz, G., Babb, L.J., Barkley, M.P., Baudis, M., Beauvais, MJS, Beck, T., Beckmann, J.S., Beltran, S., Bernick, D., Bernier, A., Bonfield, J.K., Boughtwood, T.F., Bourque, G., Bowers, S.R., Brookes, A.J., Brudno, M., Brush, M.H., Bujold, D., Burdett, T., Buske, O.J., Cabili, M.N., Cameron, D.L., Carroll, R.J., Casas-Silva, E., Chakravarty, D., Chaudhari, B.P., Chen, S.H., Cherry, J.M., Chung, J., Cline, M., Clissold, H.L., Cook-Deegan, R.M., Courtot, M., Cunningham, F., Cupak, M., Davies, R.M., Denisko, D., Doerr, M.J., Dolman, L.I., Dove, E.S., Dursi, L.J., Dyke, SOM, Eddy, J.A., Eilbeck, K., Ellrott, K.P., Fairley, S., Fakhro, K.A., Firth, H.V., Fitzsimons, M.S., Fiume, M., Flicek, P., Fore, I.M., Freeberg, M.A., Freimuth, R.R., Fromont, L.A., Fuerth, J., Gaff, C.L., Gan, W., Ghanaim, E.M., Glazer, D., Green, R.C., Griffith, M., Griffith, O.L., Grossman, R.L., Groza, T., Auvil, JMG, Guigó, R., Gupta, D., Haendel, M.A., Hamosh, A., Hansen, D.P., Hart, R.K., Hartley, D.M., Haussler, D., Hendricks-Sturrup, R.M., Ho, CWL, Hobb, A.E., Hoffman, M.M., Hofmann, O.M., Holub, P., Hsu, J.S., Hubaux, J.P., Hunt, S.E., Husami, A., Jacobsen, J.O., Jamuar, S.S., Janes, E.L., Jeanson, F., Jené, A., Johns, A.L., Joly, Y., Jones, SJM, Kanitz, A., Kato, K., Keane, T.M., Kekesi-Lafrance, K., Kelleher, J., Kerry, G., Khor, S.S., Knoppers, B.M., Konopko, M.A., Kosaki, K., Kuba, M., Lawson, J., Leinonen, R., Li, S., Lin, M.F., Linden, M., Liu, X., Udara Liyanage, I., Lopez, J., Lucassen, A.M., Lukowski, M., Mann, A.L., Marshall, J., Mattioni, M., Metke-Jimenez, A., Middleton, A., Milne, R.J., Molnár-Gábor, F., Mulder, N., Munoz-Torres, M.C., Nag, R., Nakagawa, H., Nasir, J., Navarro, A., Nelson, T.H., Niewielska, A., Nisselle, A., Niu, J., Nyrönen, T.H., O'Connor, B.D., Oesterle, S., Ogishima, S., Wang, V.O., Paglione, LAD, Palumbo, E., Parkinson, H.E., Philippakis, A.A., Pizarro, A.D., Prlic, A., Rambla, J., Rendon, A., Rider, R.A., Robinson, P.N., Rodarmer, K.W., Rodriguez, L.L., Rubin, A.F., Rueda, M., Rushton, G.A., Ryan, R.S., Saunders, G.I., Schuilenburg, H., Schwede, T., Scollen, S., Senf, A., Sheffield, N.C., Skantharajah, N., Smith, A.V., Sofia, H.J., Spalding, D., Spurdle, A.B., Stark, Z., Stein, L.D., Suematsu, M., Tan, P., Tedds, J.A., Thomson, A.A., Thorogood, A., Tickle, T.L., Tokunaga, K., Törnroos, J., Torrents, D., Upchurch, S., Valencia, A., Guimera, R.V., Vamathevan, J., Varma, S., Vears, D.F., Viner, C., Voisin, C., Wagner, A.H., Wallace, S.E., Walsh, B.P., Williams, M.S., Winkler, E.C., Wold, B.J., Wood, G.M., Woolley, J.P., Yamasaki, C., Yates, A.D., Yung, C.K., Zass, L.J., Zaytseva, K., Zhang, J., Goodhand, P., North, K., Birney, E.

المصدر: Cell genomics, vol. 1, no. 2, pp. 100029

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35072136; info:eu-repo/semantics/altIdentifier/eissn/2666-979X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0C82FBDFD2453; https://serval.unil.ch/notice/serval:BIB_0C82FBDFD245Test; urn:issn:2666-979X; https://serval.unil.ch/resource/serval:BIB_0C82FBDFD245.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0C82FBDFD2453Test

الإتاحة: https://doi.org/10.1016/j.xgen.2021.100029Test
https://serval.unil.ch/notice/serval:BIB_0C82FBDFD245Test
https://serval.unil.ch/resource/serval:BIB_0C82FBDFD245.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0C82FBDFD2453Test

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النص الكامل

4

دورية أكاديمية

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

مصطلحات موضوعية: Function and Dysfunction of the Nervous System

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/19834/1/19834oa.pdfTest; http://edoc.mdc-berlin.de/19834/7/19834suppl.zipTest; A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Rodríguez de los Santos, M. and Rivalan, M. and David, F.S. and Stumpf, A. and Pitsch, J. and Tsortouktzidis, D. and Velasquez, L.M. and Voigt, A. and Schilling, K. and Mattei, D. and Long, M. and Vogt, G. and Knaus, A. and Fischer-Zirnsak, B. and Wittler, L. and Timmermann, B. and Robinson, P.N. and Horn, D. and Mundlos, S. and Kornak, U. and Becker, A.J. and Schmitz, D. and Winter, Y. and Krawitz, P.M. Proceedings of the National Academy of Sciences of the United States of America 118 (2): e2014481118. 12 January 2021

الإتاحة: https://doi.org/10.1073/pnas.2014481118Test
http://edoc.mdc-berlin.de/19834Test/
https://edoc.mdc-berlin.de/19834Test/
http://edoc.mdc-berlin.de/19834/1/19834oa.pdfTest
http://edoc.mdc-berlin.de/19834/7/19834suppl.zipTest

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5

دورية أكاديمية

A method for comparing multiple imputation techniques: A case study on the U.S. national COVID cohort collaborative

المؤلفون: Casiraghi E., Wong R., Hall M., Coleman B., Notaro M., Evans M.D., Tronieri J.S., Blau H., Laraway B., Callahan T.J., Chan L.E., Bramante C.T., Buse J.B., Moffitt R.A., Stürmer T., Johnson S.G., Shao Y.R., Reese J., Robinson P.N., Paccanaro A., Valentini G., Huling J.D., Wilkins K.J.

المصدر: Journal of Biomedical Informatics, 139

العلاقة: https://doi.org/10.17615/r7x5-dm49Test; https://cdr.lib.unc.edu/downloads/b56452845?file=thumbnailTest; https://cdr.lib.unc.edu/downloads/b56452845Test

الإتاحة: https://doi.org/10.17615/r7x5-dm49Test
https://cdr.lib.unc.edu/downloads/b56452845?file=thumbnailTest
https://cdr.lib.unc.edu/downloads/b56452845Test

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6

دورية أكاديمية

Assessment of bones deficient in fibrillin-1 microfibrils reveals pronounced sex differences

المؤلفون: Altinbas, L., Bormann, N., Lehmann, D., Jeuthe, S., Wulsten, D., Kornak, U., Robinson, P.N., Wildemann, B., Kararigas, G.

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/18562/1/18562oa.pdfTest; Assessment of bones deficient in fibrillin-1 microfibrils reveals pronounced sex differences. Altinbas, L. and Bormann, N. and Lehmann, D. and Jeuthe, S. and Wulsten, D. and Kornak, U. and Robinson, P.N. and Wildemann, B. and Kararigas, G. International Journal of Molecular Sciences 20 (23): 6059. 1 December 2019

الإتاحة: https://doi.org/10.3390/ijms20236059Test
http://edoc.mdc-berlin.de/18562Test/
https://edoc.mdc-berlin.de/18562Test/
http://edoc.mdc-berlin.de/18562/1/18562oa.pdfTest

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7

دورية أكاديمية

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

المؤلفون: Hansen, P., Ali, S., Blau, H., Danis, D., Hecht, J., Kornak, U., Lupiáñez, D.G., Mundlos, S., Steinhaus, R., Robinson, P.N.

مصطلحات موضوعية: Cancer Research

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/18003/1/18003oa.pdfTest; http://edoc.mdc-berlin.de/18003/2/18003suppl.pdfTest; GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution. Hansen, P. and Ali, S. and Blau, H. and Danis, D. and Hecht, J. and Kornak, U. and Lupiáñez, D.G. and Mundlos, S. and Steinhaus, R. and Robinson, P.N. BMC Genomics 20 (1): 40. 14 January 2019

الإتاحة: https://doi.org/10.1186/s12864-018-5376-4Test
http://edoc.mdc-berlin.de/18003Test/
https://edoc.mdc-berlin.de/18003Test/
http://edoc.mdc-berlin.de/18003/1/18003oa.pdfTest
http://edoc.mdc-berlin.de/18003/2/18003suppl.pdfTest

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8

دورية أكاديمية

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

المؤلفون: Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., Robinson, P.N.

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, RD-CONNECT, DISEASE, VARIANTS, PLATFORM, MUTATIONS, DISCOVERY, DATABASES, TOOL

وصف الملف: fulltext

العلاقة: http://hdl.handle.net/20.500.11937/83785Test

الإتاحة: https://doi.org/20.500.11937/83785Test
https://doi.org/10.1093/nar/gky1105Test
https://hdl.handle.net/20.500.11937/83785Test

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9

تقرير

A CRISPR-Cas9-engineered mouse model for GPI anchor deficiency mirrors human phenotype and shows hippocampal synaptic dysfunctions

المؤلفون: Rodríguez de los Santos, M., Rivalan, M., David, F.S., Knaus, A., Stumpf, A., Velasquez, L.M., Voigt, A., Mattei, D., Long, M., Vogt, G., Wittler, L., Timmermann, B., Robinson, P.N., Horn, D., Mundlos, S., Kornak, U., Schmitz, D., Winter, Y., Krawitz, P.M.

مصطلحات موضوعية: Function and Dysfunction of the Nervous System

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/18932/1/18932oa.pdfTest; http://edoc.mdc-berlin.de/18932/7/18932suppl.zipTest; A CRISPR-Cas9-engineered mouse model for GPI anchor deficiency mirrors human phenotype and shows hippocampal synaptic dysfunctions. Rodríguez de los Santos, M. and Rivalan, M. and David, F.S. and Knaus, A. and Stumpf, A. and Velasquez, L.M. and Voigt, A. and Mattei, D. and Long, M. and Vogt, G. and Wittler, L. and Timmermann, B. and Robinson, P.N. and Horn, D. and Mundlos, S. and Kornak, U. and Schmitz, D. and Winter, Y. and Krawitz, P.M. bioRxiv : 2020.04.20.050591. 21 April 2020

الإتاحة: https://doi.org/10.1101/2020.04.20.050591Test
http://edoc.mdc-berlin.de/18932Test/
https://edoc.mdc-berlin.de/18932Test/
http://edoc.mdc-berlin.de/18932/1/18932oa.pdfTest
http://edoc.mdc-berlin.de/18932/7/18932suppl.zipTest

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