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1دورية أكاديمية
المؤلفون: Ababio, Yaa, Kelly, Scott P., Angeli, Franca S, Berghout, Joanne, Huang, Kui, Liu, Kathy, Burns, Sara, Senerchia, Cynthia, Moccia, Rob, Brooks, Gabriel C.
المصدر: In American Journal of Medicine Open December 2023 10
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2
المؤلفون: Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschuentzsch, Jana, Zuccolo, Michela, Muellenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Huebner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats G., 1952, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farne, Marianna, Fortunato, Fernanda, Ferlini, Alessandra
المصدر: PLOS ONE. 18(11)
وصف الملف: electronic
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3دورية أكاديمية
المؤلفون: Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G, Exome Aggregation Consortium
المصدر: Nature. 536(7616)
مصطلحات موضوعية: Exome Aggregation Consortium, Humans, Rare Diseases, Proteome, Sample Size, DNA Mutational Analysis, Phenotype, Genetic Variation, Exome, Datasets as Topic, Clinical Research, Biotechnology, Human Genome, Genetics, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, General Science & Technology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/04j4327s
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4دورية أكاديمية
المؤلفون: Zaim, Samir RachidAff1, Aff2, Aff3, Kenost, ColleenAff1, Aff3, Berghout, JoanneAff1, Aff3, Chiu, WesleyAff1, Aff3, Wilson, LiamAff1, Aff3, Zhang, Hao HelenAff1, Aff2, Aff4, Lussier, Yves A.Aff1, Aff2, Aff3, Aff5, Aff6, Aff7
المصدر: BMC Bioinformatics. 21(1)
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5دورية أكاديمية
المؤلفون: Li, Qike, Schissler, A. Grant, Gardeux, Vincent, Berghout, Joanne, Achour, Ikbel, Kenost, Colleen, Li, Haiquan, Zhang, Hao Helen, Lussier, Yves A.
المصدر: In Journal of Biomedical Informatics February 2017 66:32-41
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6دورية أكاديمية
المؤلفون: Rachid Zaim, SamirAff1, Aff2, Aff3, Kenost, ColleenAff1, Aff3, Berghout, JoanneAff1, Aff3, Chiu, WesleyAff1, Aff3, Wilson, LiamAff1, Aff3, Zhang, Hao HelenAff1, Aff2, Aff4, Lussier, Yves A.Aff1, Aff2, Aff3, Aff5, Aff6, Aff7
المصدر: BMC Bioinformatics. 21(1)
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7دورية أكاديمية
المؤلفون: Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela
المصدر: Orphanet Journal of Rare Diseases; 10/4/2023, Vol. 18 Issue 1, p1-4, 4p
مصطلحات موضوعية: GENETIC testing, NEWBORN screening, RARE diseases, MEDICAL sciences, GENETIC disorders, REVERSE genetics, NUCLEOTIDE sequencing
الشركة/الكيان: EUROPEAN Union
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8دورية أكاديمية
المؤلفون: Rachid Zaim, SamirAff1, Aff2, Aff3, Kenost, ColleenAff1, Aff2, Berghout, JoanneAff1, Aff2, Aff4, Vitali, FrancescaAff1, Aff2, Zhang, Helen HaoAff3, Aff5, Lussier, Yves A.Aff1, Aff2, Aff3, Aff4, Aff6
المصدر: BMC Medical Genomics. 12(Suppl 5)
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9دورية أكاديمية
المؤلفون: Li, HaiquanAff1, Aff2, Aff3, Aff9, Fan, JungweiAff1, Aff2, Vitali, FrancescaAff1, Aff2, Aff7, Berghout, JoanneAff1, Aff2, Aff4, Aff5, Aberasturi, DillonAff1, Aff2, Aff3, Li, JianrongAff1, Aff2, Aff7, Wilson, LiamAff1, Chiu, WesleyAff1, Pumarejo, MinsuAff1, Han, JialiAff1, Aff2, Aff10, Kenost, ColleenAff1, Aff2, Koripella, Pradeep C.Aff1, Aff2, Pouladi, NimaAff1, Aff2, Billheimer, DeanAff1, Aff3, Aff7, Aff8, Bedrick, Edward J.Aff1, Aff3, Aff7, Aff8, Lussier, Yves A.Aff1, Aff2, Aff3, Aff4, Aff5, Aff6, Aff7
المصدر: BMC Medical Genomics. 11(Suppl 6)
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10دورية أكاديمية
المؤلفون: Idaghdour, Youssef, Quinlan, Jacklyn, Goulet, Jean-Philippe, Berghout, Joanne, Gbeha, Elias, Bruat, Vanessa, de Malliard, Thibault, Grenier, Jean-Christophe, Gomez, Selma, Gros, Philippe, Rahimy, Mohamed Chérif, Sanni, Ambaliou, Awadalla, Philip
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2012 Oct . 109(42), 16786-16793.
URL الوصول: https://www.jstor.org/stable/41763439