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pro vyhledávání: '"Kaplan, Diane"'
Akademický článek
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Publikováno v:
The American Archivist, 2002 Apr 01. 65(1), 56-69.
Externí odkaz:
https://www.jstor.org/stable/40294189
Publikováno v:
The Journal of Educational Research, 2001 Jul 01. 94(6), 360-370.
Externí odkaz:
https://www.jstor.org/stable/27542347
Publikováno v:
The Journal of Educational Research, 2000 Mar 01. 93(4), 235-244.
Externí odkaz:
https://www.jstor.org/stable/27542270
Autor:
Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Aguilar Salinas, Carlos A., Ahmad, Tariq, Albert, Christine M., Ardissino, Diego, Atzmon, Gil, Barnard, John, Beaugerie, Laurent, Benjamin, Emelia J., Boehnke, Michael, Bonnycastle, Lori L., Bottinger, Erwin P., Bowden, Donald W., Bown, Matthew J., Chambers, John C., Chan, Juliana C., Chasman, Daniel, Cho, Judy, Chung, Mina K., Cohen, Bruce, Correa, Adolfo, Dabelea, Dana, Daly, Mark J., Darbar, Dawood, Duggirala, Ravindranath, Dupuis, Josée, Ellinor, Patrick T., Elosua, Roberto, Erdmann, Jeanette, Esko, Tõnu, Färkkilä, Martti, Florez, Jose, Franke, Andre, Getz, Gad, Glaser, Benjamin, Glatt, Stephen J., Goldstein, David, Gonzalez, Clicerio, Groop, Leif, Haiman, Christopher, Hanis, Craig, Harms, Matthew, Hiltunen, Mikko, Holi, Matti M., Hultman, Christina M., Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Kim, Bong Jo, Kim, Young Jin, Kirov, George, Kooner, Jaspal, Koskinen, Seppo, Krumholz, Harlan M., Kugathasan, Subra, Kwak, Soo Heon, Laakso, Markku, Lehtimäki, Terho, Loos, Ruth J.F., Lubitz, Steven A., Ma, Ronald C.W., MacArthur, Daniel G., Marrugat, Jaume, Mattila, Kari M., McCarthy, Mark I., McGovern, Dermot, McPherson, Ruth, Meigs, James B., Melander, Olle, Metspalu, Andres, Neale, Benjamin M., Nilsson, Peter M., O’Donovan, Michael C., Ongur, Dost, Orozco, Lorena, Palotie, Aarno, Park, Kyong Soo, Pato, Carlos, Pulver, Ann E., Rahman, Nazneen, Remes, Anne M., Rioux, John D., Ripatti, Samuli, Roden, Dan M., Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Scharf, Jeremiah, Schunkert, Heribert, Shoemaker, Moore B., Sklar, Pamela, Soininen, Hilkka, Sokol, Harry, Spector, Tim, Sullivan, Patrick F., Suvisaari, Jaana, Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, Tuomi, Tsuang, Ming, Turner, Dan, Tusie-Luna, Teresa, Vartiainen, Erkki, Vawter, Marquis P., Watkins, Hugh, Weersma, Rinse K., Wessman, Maija, Xavier, Ramnik J.
Publikováno v:
E53
Nature
Nature
In this Article, author Marquis P. Vawter was missing from the Genome Aggregation Database Consortium list. They are associated with the affiliation: ‘Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, CA, USA’, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3724f1e404364fb3e3ce0a1800184647
https://eprints.soton.ac.uk/468340/
https://eprints.soton.ac.uk/468340/
Autor:
Vinokur-Kaplan, Diane1 dkv@umich.edu
Publikováno v:
Nonprofit Policy Forum. Dec2017, Vol. 8 Issue 4, p429-444. 16p.
Autor:
Kaplan, Diane E.
Publikováno v:
The American Archivist, 1996 Jul 01. 59(3), 288-297.
Externí odkaz:
https://www.jstor.org/stable/40293987
Autor:
Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, O’Donnell-Luria, Anne H., Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Tiao, Grace, Tibbetts, Kathleen
Publikováno v:
Nature
Minikel, E V, Karczewski, K J, Martin, H C, Cummings, B B, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, R C, van Heel, D A, Daly, M J, Alföldi, J, Armean, I M, Banks, E, Bergelson, L, Cibulskis, K, Collins, R L, Connolly, K M, Covarrubias, M, Cummings, B B, Daly, M J, Donnelly, S, Farjoun, Y, Ferriera, S, Francioli, L, Gabriel, S, Gauthier, L D, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Karczewski, K J, Laricchia, K M, Llanwarne, C, Minikel, E V, Munshi, R, Neale, B M, Novod, S, O’Donnell-Luria, A H, Petrillo, N, Poterba, T, Roazen, D, Ruano-Rubio, V, Saltzman, A, Samocha, K E, Schleicher, M, Seed, C, Solomonson, M & Soto, J & Tiao, G & Tibbetts, K 2020, ' Evaluating drug targets through human loss-of-function genetic variation ', Nature, vol. 581, no. 7809, pp. 459-464 . https://doi.org/10.1038/s41586-020-2267-z
Minikel, E V, Karczewski, K J, Martin, H C, Cummings, B B, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, R C, van Heel, D A, Daly, M J, Alföldi, J, Armean, I M, Banks, E, Bergelson, L, Cibulskis, K, Collins, R L, Connolly, K M, Covarrubias, M, Cummings, B B, Daly, M J, Donnelly, S, Farjoun, Y, Ferriera, S, Francioli, L, Gabriel, S, Gauthier, L D, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Karczewski, K J, Laricchia, K M, Llanwarne, C, Minikel, E V, Munshi, R, Neale, B M, Novod, S, O’Donnell-Luria, A H, Petrillo, N, Poterba, T, Roazen, D, Ruano-Rubio, V, Saltzman, A, Samocha, K E, Schleicher, M, Seed, C, Solomonson, M & Soto, J & Tiao, G & Tibbetts, K 2020, ' Evaluating drug targets through human loss-of-function genetic variation ', Nature, vol. 581, no. 7809, pp. 459-464 . https://doi.org/10.1038/s41586-020-2267-z
Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we report three key findings reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ce474477054ef9d4f8493d4843adc8
http://hdl.handle.net/10138/325140
http://hdl.handle.net/10138/325140
Autor:
Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana
Publikováno v:
Nature
The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c686e36d46187245db7b242ea0302305
https://trepo.tuni.fi/handle/10024/128032
https://trepo.tuni.fi/handle/10024/128032
Akademický článek
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