المؤلفون: Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., Carvill, Gemma L.

المصدر: In The American Journal of Human Genetics 4 January 2024 111(1):96-118

المؤلفون: Zieger, Hanna K., Weinhold, Leonie, Schmidt, Axel, Holtgrewe, Manuel, Juranek, Stefan A., Siewert, Anna, Scheer, Annika B., Thieme, Frederic, Mangold, Elisabeth, Ishorst, Nina, Brand, Fabian U., Welzenbach, Julia, Beule, Dieter, Paeschke, Katrin, Krawitz, Peter M., Ludwig, Kerstin U.

المصدر: In Human Genetics and Genomics Advances 12 January 2023 4(1)

المؤلفون: Ruff, Katharina L. M., Hollstein, Ronja, Fazaal, Julia, Thieme, Frederic, Gehlen, Jan, Mangold, Elisabeth, Knapp, Michael, Welzenbach, Julia, Ludwig, Kerstin U.^{Aff1, IDs41598022058767_cor9}

المصدر: Scientific Reports. 12(1)

المؤلفون: Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori^{Aff1, Aff4}, Danyel, Magdalena^{Aff4, Aff6}, Mensah, Martin Atta^{Aff4, Aff7}, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah^{Aff1, Aff8}, Lesmann, Hellen, Sivalingam, Sugirthan^{Aff1, Aff8, Aff9}, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien^{Aff12, Aff13}, Bézieau, Stéphane^{Aff12, Aff13}, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim^{Aff14, Aff15}, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias^{Aff17, Aff18}, Brunet, Theresa^{Aff17, Aff18}, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J.^{Aff21, Aff22}, Spielmann, Malte, Schaaf, Christian P., Mundlos, Stefan, Nöthen, Markus M., Krawitz, Peter M.^{Aff1, IDs4158802101010x_cor47}

المصدر: Nature Genetics. 54(3):349-357

المؤلفون: Mathey, Carina M, Maj, Carlo, Scheer, Annika B, Fazaal, Julia, Wedi, Bettina, Wieczorek, Dorothea, Amann, Philipp M, Löffler, Harald, Koch, Lukas, Schöffl, Clemens, Dickel, Heinrich, Ganjuur, Nomun, Hornung, Thorsten, Forkel, Susann, Greve, Jens, Wurpts, Gerda, Hallberg, Pär, 1974, Bygum, Anette, Von Buchwald, Christian, Karawajczyk, Malgorzata, Steffens, Michael, Stingl, Julia, Hoffmann, Per, Heilmann-Heimbach, Stefanie, Mangold, Elisabeth, Ludwig, Kerstin U, Rasmussen, Eva R, Wadelius, Mia, Sachs, Bernhardt, Nöthen, Markus M, Forstner, Andreas J

المصدر: Frontiers in Genetics. 13

مصطلحات موضوعية: angioedema, angiotensin receptor blocker, angiotensin-converting enzyme inhibitor, genetics, hereditary angioedema, sequencing

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-491743
https://doi.org/10.3389/fgene.2022.914376
https://uu.diva-portal.org/smash/get/diva2:1721746/FULLTEXT01.pdf

المؤلفون: Gehlen, Jan, Giel, Ann-Sophie, Koellges, Ricarda, Haas, Stephan L., Zhang, Rong, Trcka, Jiri, Sungur, Ayse O., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjold, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C. W., Smigiel, Robert, Patkowski, Dariusz, Roeleveld, Nel, van Rooij, Iris Alm, de Blaauw, Ivo, Hoelscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Blaess, Gaby, Landen, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Engstrand Lilja, Helene, 1963, Azodi, Sahar, Stenstrom, Pernilla, Arnbjornsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kalicinski, Piotr, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Noethen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra, Boemers, Thomas M., Mokrowiecka, Anna, Malecka-Panas, Ewa, Woehr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin, Reutter, Heiko, Schumacher, Johannes

المصدر: Human Genetics and Genomics Advances. 3(2)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-474466
https://doi.org/10.1016/j.xhgg.2022.100093
https://uu.diva-portal.org/smash/get/diva2:1658287/FULLTEXT01.pdf

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المؤلفون: Müller, Philipp L, Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J, Finger, Robert P, McGuinness, Myra, Betz, Christian, Jiang, Zhichun, Weber, Bernhard HF, MacLaren, Robert E, Holz, Frank G, Radu, Roxana A, Issa, Peter Charbel

المصدر: Investigative Ophthalmology & Visual Science. 56(13)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Genetics, Rare Diseases, Eye Disease and Disorders of Vision, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Eye, ATP-Binding Cassette Transporters, Adult, Alleles, Animals, Cross-Sectional Studies, DNA, DNA Mutational Analysis, Disease Models, Animal, Female, Fluorescein Angiography, Fundus Oculi, Humans, Male, Mice, Mice, Knockout, Middle Aged, Mutation, Phenotype, Retinal Diseases, Retinal Pigment Epithelium, Retrospective Studies, Tomography, Optical Coherence, quantitative fundus autofluorescence, monoallelic, Abca4, carrier, phenotype, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/29f0g3dp

المؤلفون: Hsieh, Tzung-Chien^{Aff1, Aff2, Aff3}, Mensah, Martin A.^{Aff2, Aff3}, Pantel, Jean T.^{Aff1, Aff2, Aff3}, Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia^{Aff16, Aff17}, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.^Aff1

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2807-2814

المؤلفون: Khandelwal, Kriti D., van den Boogaard, Marie-José H., Mehrem, Sarah L.^{Aff3, Aff4}, Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina^{Aff3, Aff4}, van Rooij, Iris A. L. M., Roeleveld, Nel, Christensen, Kaare^{Aff6, Aff11}, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C., Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U.^{Aff3, Aff4}, Mangold, Elisabeth, Hoischen, Alexander^{Aff9, Aff17}, Zhou, Huiqing^{Aff8, Aff9}, Dötsch, Volker, Carels, Carine E. L.^{Aff1, Aff9, Aff18, Aff19}, van Bokhoven, Hans^Aff7

المصدر: European Journal of Human Genetics. 27(7):1101-1112