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1Academic Journal
المؤلفون: Lee, Arthur, Ayers, Lauren, Kosicki, Michael, Chan, Wai-Man, Fozo, Lydia, Pratt, Brandon, Collins, Thomas, Zhao, Boxun, Rose, Matthew, Sanchis-Juan, Alba, Fu, Jack, Wong, Isaac, Zhao, Xuefang, Tenney, Alan, Lee, Cassia, Laricchia, Kristen, Barry, Brenda, Bradford, Victoria, Jurgens, Julie, England, Eleina, Lek, Monkol, MacArthur, Daniel, Lee, Eunjung, Talkowski, Michael, Brand, Harrison, Pennacchio, Len, Engle, Elizabeth
المصدر: Nature Communications. 15(1)
مصطلحات موضوعية: Animals, Mice, Humans, Enhancer Elements, Genetic, Motor Neurons, Chromatin, Male, Single-Cell Analysis, Epigenomics, Female, Pedigree
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, OHeir, Emily, Ganesh, Vijay, Wojcik, Monica, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha, Neil, Jennifer, Shao, Diane, Walsh, Christopher, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott, Gleeson, Joseph, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay, Madden, Jill, Genetti, Casie, Beggs, Alan, Agrawal, Pankaj, Bujakowska, Kinga, Place, Emily, Pierce, Eric, Donkervoort, Sandra, Bönnemann, Carsten, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong, White, Susan, Töpf, Ana, Straub, Volker, Fleming, Mark, Pollak, Martin, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel, MacArthur, Daniel, Rehm, Heidi, Talkowski, Michael, Brand, Harrison, ODonnell-Luria, Anne
المصدر: American Journal of Human Genetics. 111(5)
مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification, Humans, DNA Copy Number Variations, Rare Diseases, Exome, Male, Female, Exome Sequencing, Cohort Studies, Genetic Testing
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660
مصطلحات موضوعية: Medicin och hälsovetenskap
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4Academic Journal
المؤلفون: Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-26 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5Academic Journal
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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6Dissertation/ Thesis
المؤلفون: Gómez Sanchis, Juan
المساهمون: University/Department: Universitat de València. Departament d'Enginyeria Electrònica
Thesis Advisors: Camps Valls, Gustavo, Blasco Ivars, José
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: E.T.S. d'Enginyeria
Time: 621.3
وصف الملف: application/pdf
URL الوصول: http://hdl.handle.net/10803/31958
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7Academic Journal
المؤلفون: Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán
المصدر: Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102374- (2024)
مصطلحات موضوعية: MT: Oligonucleotides: Therapies and Applications, Usher syndrome, USH2A, non-coding regions, deep-intronic, splicing, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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8Report
المؤلفون: Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Diseases, Genomics Research to Elucidate the Genetics of Rare, Consortium, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
مصطلحات موضوعية: Quantitative Biology - Genomics
URL الوصول: http://arxiv.org/abs/2301.07363
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9Report
المؤلفون: Vallés-Pérez, Iván, Soria-Olivas, Emilio, Martínez-Sober, Marcelino, Serrano-López, Antonio J., Vila-Francés, Joan, Gómez-Sanchís, Juan
مصطلحات موضوعية: Computer Science - Computer Vision and Pattern Recognition, Computer Science - Artificial Intelligence
URL الوصول: http://arxiv.org/abs/2301.05993
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10Report
المؤلفون: Vallés-Pérez, Iván, Soria-Olivas, Emilio, Martínez-Sober, Marcelino, Serrano-López, Antonio J., Gómez-Sanchís, Juan, Mateo, Fernando
مصطلحات موضوعية: Computer Science - Machine Learning, Computer Science - Artificial Intelligence, Statistics - Applications
URL الوصول: http://arxiv.org/abs/2204.07786
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11Report
المؤلفون: Vallés-Pérez, Iván, Gómez-Sanchis, Juan, Martínez-Sober, Marcelino, Vila-Francés, Joan, Serrano-López, Antonio J., Soria-Olivas, Emilio
مصطلحات موضوعية: Computer Science - Computation and Language
URL الوصول: http://arxiv.org/abs/2110.07498
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12Academic Journal
المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC
المصدر: American journal of human genetics. 103(5):666-678
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13Academic Journal
المصدر: Revista de Historia Industrial; 2012: Núm.: 50; p. 113-154
مصطلحات موضوعية: España, Transferencia internacional de tecnología, Patentes, Productividad, Técnicas de cointegración., Spain, International Technology Transfer, Patents, Productivity, Cointegration Techniques.
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Javier Cuenca-Guardiola, Belén de la Morena-Barrio, Juan L. García, Alba Sanchis-Juan, Javier Corral, Jesualdo T. Fernández-Breis
المصدر: Journal of Advanced Research, Vol 50, Iss , Pp 145-158 (2023)
مصطلحات موضوعية: Nanopore, Structural variant, Third-generation sequencing, SERPINC1, Medicine (General), R5-920, Science (General), Q1-390
وصف الملف: electronic resource
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15Academic Journal
المؤلفون: Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101015- (2024)
وصف الملف: electronic resource
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16Academic Journal
المؤلفون: Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101136- (2024)
وصف الملف: electronic resource
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17Academic Journal
المؤلفون: Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)
وصف الملف: electronic resource
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18Academic Journal
المؤلفون: Jurgens, Julie A, Barry, Brenda J, Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C, Matos Ruiz, Paola M, Pratt, Brandon M, England, Eleina M, Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A, Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S, Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M, Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R, Foster, Emma E, Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M, Sanchis-Juan, Alba, Fu, Jack M, Wong, Isaac, Zhao, Xuefang, Ocular CCCDD Phenotyping Consortium, Gerth-Kahlert, Christina
المصدر: Jurgens, Julie A; Barry, Brenda J; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C; Matos Ruiz, Paola M; Pratt, Brandon M; England, Eleina M; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R; Foster, Emma E; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; et al; Ocular CCCDD Phenotyping Consortium; Gerth-Kahlert, Christina; et al (2024). Expanding the Genetics and Phenotypes of Ocular Congenital Cranial Dysinnervation Disorders. Genetics ....
مصطلحات موضوعية: Ophthalmology Clinic, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/266541/1/ZORA_266541.pdf; info:pmid/39033378; urn:issn:1098-3600
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19Academic Journal
المؤلفون: Gavara Doñate, Jose, Merenciano, Héctor, Llopis-Lorente, Jordi, Molina-Garcia, Tamara, Perez-Solé, Nerea, de Dios, Elena, Marcos-Garces, Víctor, Monmeneu, José V., Lopez-Lereu, María P., Canoves, Joaquim, Bonanad, Clara, Moratal, David, Núñez, Julio, Bayés-Genis, Antoni, Sanchis, Juan, Chorro, Francisco J., Rios-Navarro, Cesar, Bodi, Vicente
مصطلحات موضوعية: ST-segment elevation myocardial infarction, epicardial adipose tissue, cardiovascular, magnetic resonance, infarct size, left ventricular ejection fraction
وصف الملف: application/pdf
Relation: Instituto de Salud Carlos III PI20/00637; Instituto de Salud Carlos III PI23/01150; Ministerio de Economía y Competitividad CB16/11/00403; Ministerio de Economía y Competitividad CB16/11/00420; Ministerio de Economía y Competitividad CB16/11/00486; Ministerio de Economía y Competitividad CM21/00175; Agencia Estatal de Investigación FJC2020-043981-I/AEI/10.13039/501100011033; Diagnostics; Vol. 14 Núm. 4 (february 2024), p. 368; https://ddd.uab.cat/record/302144; urn:10.3390/diagnostics14040368; urn:oai:ddd.uab.cat:302144; urn:scopus_id:85187267564; urn:articleid:20754418v14n4p368; urn:oai:pubmedcentral.nih.gov:10888463; urn:pmid:38396407; urn:pmcid:PMC10888463
الاتاحة: https://ddd.uab.cat/record/302144
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20Academic Journal
المؤلفون: Kotanidis, Christos P., Mills, Gregory B., Bendz, Bjørn, Berg, Erlend S., Hildick-Smith, David, Hirlekar, Geir, Milasinovic, Dejan, Morici, Nuccia, Myat, Aung, Tegn, Nicolai Kloumann, Sanchis, Juan, Savonitto, Stefano, De Servi, Stefano, Fox, Keith A.A., Pocock, Stuart, Kunadian, Vijay
المصدر: 0195-668X.
Relation: http://hdl.handle.net/10852/113706; 2280648; European Heart Journal; 45; 23; 2052; 2062; http://doi.org/10.1093/eurheartj/ehae151