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

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

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-521890
https://doi.org/10.1371/journal.pone.0293503
https://uu.diva-portal.org/smash/get/diva2:1834587/FULLTEXT01.pdf

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

المؤلفون: Zaim, Samir Rachid^{Aff1, Aff2, Aff3}, Kenost, Colleen^{Aff1, Aff3}, Berghout, Joanne^{Aff1, Aff3}, Chiu, Wesley^{Aff1, Aff3}, Wilson, Liam^{Aff1, Aff3}, Zhang, Hao Helen^{Aff1, Aff2, Aff4}, Lussier, Yves A.^{Aff1, Aff2, Aff3, Aff5, Aff6, Aff7}

المصدر: BMC Bioinformatics. 21(1)

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

المؤلفون: Rachid Zaim, Samir^{Aff1, Aff2, Aff3}, Kenost, Colleen^{Aff1, Aff3}, Berghout, Joanne^{Aff1, Aff3}, Chiu, Wesley^{Aff1, Aff3}, Wilson, Liam^{Aff1, Aff3}, Zhang, Hao Helen^{Aff1, Aff2, Aff4}, Lussier, Yves A.^{Aff1, Aff2, Aff3, Aff5, Aff6, Aff7}

المصدر: BMC Bioinformatics. 21(1)

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

المؤلفون: Rachid Zaim, Samir^{Aff1, Aff2, Aff3}, Kenost, Colleen^{Aff1, Aff2}, Berghout, Joanne^{Aff1, Aff2, Aff4}, Vitali, Francesca^{Aff1, Aff2}, Zhang, Helen Hao^{Aff3, Aff5}, Lussier, Yves A.^{Aff1, Aff2, Aff3, Aff4, Aff6}

المصدر: BMC Medical Genomics. 12(Suppl 5)

المؤلفون: Li, Haiquan^{Aff1, Aff2, Aff3, Aff9}, Fan, Jungwei^{Aff1, Aff2}, Vitali, Francesca^{Aff1, Aff2, Aff7}, Berghout, Joanne^{Aff1, Aff2, Aff4, Aff5}, Aberasturi, Dillon^{Aff1, Aff2, Aff3}, Li, Jianrong^{Aff1, Aff2, Aff7}, Wilson, Liam^Aff1, Chiu, Wesley^Aff1, Pumarejo, Minsu^Aff1, Han, Jiali^{Aff1, Aff2, Aff10}, Kenost, Colleen^{Aff1, Aff2}, Koripella, Pradeep C.^{Aff1, Aff2}, Pouladi, Nima^{Aff1, Aff2}, Billheimer, Dean^{Aff1, 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)

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