المؤلفون: Ung, Dévina C., Pietrancosta, Nicolas^{Aff2, Aff3}, Badillo, Elena Baz, Raux, Brigitt, Tapken, Daniel, Zlatanovic, Andjela, Doridant, Adrien, Pode-Shakked, Ben^{Aff6, Aff7, Aff8}, Raas-Rothschild, Annick^{Aff6, Aff8}, Elpeleg, Orly^{Aff9, Aff10}, Abu-Libdeh, Bassam, Hamed, Nasrin^{Aff8, Aff12}, Papon, Marie-Amélie, Marouillat, Sylviane, Thépault, Rose-Anne, Stevanin, Giovanni, Elegheert, Jonathan, Letellier, Mathieu, Hollmann, Michael, Lambolez, Bertrand, Tricoire, Ludovic, Toutain, Annick^{Aff1, Aff14, IDs4138002402469w_cor22}, Hepp, Régine^{Aff2, IDs4138002402469w_cor23}, Laumonnier, Frédéric^{Aff1, Aff15, IDs4138002402469w_cor24}

المصدر: Molecular Psychiatry. 29(4):1205-1215

المؤلفون: Acosta, Maria T., Adams, David R., Raquel, Alvarez, L., Alvey, Justin, Allworth, Aimee, 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, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Carvhalo Neto, George D., Cassini, Thomas, Peter Chang, Ta Chen, 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., Grajewski, Alana, Hadley, Don, 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, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, 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, 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, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Moore, Ryan M., Morava, Eva, Moretti, Paolo, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., 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, John A., III, 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., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., 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, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, 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, Huang, Yue, Jay, Kristy L., Yen-Wen Huang, Alden, Jangam, Sharayu V., Chorin, Odelia, Rothschild, Annick, Barel, Ortal, Mariani, Milena, Iascone, Maria, Xue, Han, Huang, Jing, Mignot, Cyril, Keren, Boris, Saillour, Virginie, Mah-Som, Annelise Y., Sacharow, Stephanie, Rajabi, Farrah, Costin, Carrie, Kanca, Oguz, Martinez-Agosto, Julian A.

المصدر: In Genetics in Medicine July 2024

المؤلفون: Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent

المصدر: European Journal of Human Genetics. 29(9)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Digestive Diseases, Liver Disease, Brain Disorders, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Deafness, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intellectual Disability, Loss of Function Mutation, Male, Membrane Proteins, Mutation, Missense, Pedigree, Phenotype, Syndrome, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3jk59196

المؤلفون: Pode-Shakked, Ben^{Aff1, Aff2, Aff3, Aff4}, Ben-Moshe, Yishay^{Aff1, Aff4}, Barel, Ortal^{Aff5, Aff6}, Regev, Lilach C.^{Aff1, Aff4}, Kagan, Maayan^{Aff1, Aff4}, Eliyahu, Aviva^{Aff4, Aff7}, Marek-Yagel, Dina^{Aff4, Aff6, Aff8}, Atias-Varon, Danit, Lahav, Einat^{Aff4, Aff9}, Issler, Naomi^{Aff4, Aff9}, Shlomovitz, Omer^{Aff1, Aff4}, Semo Oz, Rotem^{Aff1, Aff4}, Kol, Nitzan, Mor, Nofar, Bar-Joseph, Ifat, Khavkin, Yulia, Javasky, Elisheva, Beckerman, Pazit^{Aff4, Aff10}, Greenberg, Meidad^{Aff4, Aff11}, Volovelsky, Oded^{Aff12, Aff13}, Borovitz, Yael, Davidovits, Miriam^{Aff4, Aff14}, Haskin, Orly^{Aff4, Aff14}, Alfandary, Hadas^{Aff4, Aff14}, Levi, Shely^{Aff4, Aff14}, Kaidar, Maital^{Aff4, Aff15}, Katzir, Ze’ev^{Aff16, Aff17}, Angel-Korman, Avital^{Aff16, Aff17}, Becker-Cohen, Rachel^{Aff18, Aff19}, Ben-Shalom, Efrat^{Aff18, Aff19}, Leiba, Adi^{Aff16, Aff17, Aff20, Aff21}, Mor, Eytan^{Aff4, Aff22}, Dagan, Amit^{Aff4, Aff14}, Pessach, Itai M.^{Aff3, Aff4, Aff23}, Lotan, Danny^{Aff4, Aff9}, Shashar, Moshe^{Aff24, Aff25}, Anikster, Yair^{Aff4, Aff6, Aff8}, Raas-Rothschild, Annick^{Aff2, Aff4}, Rechavi, Gideon^{Aff4, Aff5, Aff6}, Dekel, Benjamin^{Aff4, Aff9, Aff26}, Vivante, Asaf^{Aff1, Aff3, Aff4, Aff9, IDs00467021053744_cor41}

المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 37(7):1623-1646

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المؤلفون: Chorin, Odelia, Chowers, Guy, Agbariah, Rawan, Karklinsky, Shani, Barel, Ortal, Bar-Joseph, Ifat, Reznik-Wolf, Haike, Shamash, Jana, Pode-Shakked, Ben, Jacobson, Jeffrey M., Huna-Baron, Ruth, Redler, Yael, Tirosh, Irit, Vivante, Asaf, Raas-Rothschild, Annick

المصدر: In European Journal of Medical Genetics January 2022 65(1)

المؤلفون: Merdler-Rabinowicz, Rona^{Aff1, Aff2}, Pode-Shakked, Ben^{Aff2, Aff3}, Vivante, Asaf^{Aff2, Aff4, Aff5}, Lahav, Einat^{Aff2, Aff4}, Kagan, Maayan^{Aff2, Aff4, Aff5}, Chorin, Odelia^{Aff2, Aff3}, Somech, Raz^{Aff2, Aff6}, Raas-Rothschild, Annick^{Aff2, Aff3, IDs00467021052163_cor8}

المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 36(12):4009-4012

المؤلفون: Merdler-Rabinowicz, Rona, Prat, Daphna, Pode-Shakked, Ben, Abel, Gali, Chorin, Odelia, Somech, Raz, Raas-Rothschild, Annick

المصدر: In European Journal of Medical Genetics June 2021 64(6)

المؤلفون: Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas^{Aff2, Aff3}, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W.^{Aff6, Aff7}, Simon, Marleen E. H., Genetti, Casie A.^{Aff9, Aff10}, Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick^{Aff14, Aff15}, Koolen, David A., Agrawal, Pankaj B.^{Aff9, Aff10, Aff16}, Hoffman, Trevor L., Powell-Hamilton, Nina N.^{Aff18, Aff19}, Thiffault, Isabelle^{Aff20, Aff21}, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M.^{Aff23, Aff24}, Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M.^{Aff2, Aff3}, Kleefstra, Tjitske^Aff1

المصدر: Molecular Psychiatry. 26(6):2013-2024

المؤلفون: Pode-Shakked, Ben, Finezilber, Yael, Levi, Yonit, Liber, Shiri, Fleischer, Nicole, Greenbaum, Lior, Raas-Rothschild, Annick

المصدر: In European Journal of Medical Genetics July 2020 63(7)