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1دورية أكاديمية
المؤلفون: Berger, Tal DavidAff1, IDs00431024056683_cor1, Fogel Berger, Chen, Gara, Sewar, Ben-Zeev, BruriaAff2, Aff3, Weiss, BatiaAff1, Aff2
المصدر: European Journal of Pediatrics. :1-7
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2دورية أكاديمية
المؤلفون: Suresh, Varun, Bhattacharya, Bidisha, Tshuva, Rami, Danan Gotthold, Miri, Olender, Tsviya, Bose, Mahima, Pradhan, Saurabh, Zeev, Bruria, Smith, Richard, Tole, Shubha, Galande, Sanjeev, Harwell, Corey, Baizabal, José-Manuel, Reiner, Orly
مصطلحات موضوعية: 1p36 deletion syndrome, LHX2, PRDM16, brain development, cerebral organoids, human disease model
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6kh6c49k
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3دورية أكاديمية
المؤلفون: Sachs, Nimrod, Zohar-Dayan, Efrat, Ben Zeev, Bruria, Gilboa, Tal, Kurd, Mohammad, Latzer, Itay Tokatly, Meirson, Hadas, Krause, Irit, Dizitzer, Yotam, Cohen, Esther Ganelin
المصدر: In European Journal of Paediatric Neurology May 2024 50:1-5
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4دورية أكاديمية
المؤلفون: Jurkowicz, Menucha, Leibovitz, Eugene, Ben-Zeev, Bruria, Keller, Nathan, Kriger, Or, Sherman, Gilad, Amit, Sharon, Barkai, Galia, Mandelboim, Michal, Stein, Michal
المصدر: In Pediatric Neurology April 2024 153:68-76
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5دورية أكاديمية
المؤلفون: Tzadok, Michal, Gur-Pollack, Rotem, Florh, Hadar, Michaeli, Yael, Gilboa, Tal, Lezinger, Mirit, Heyman, Eli, Chernuha, Veronika, Gudis, Irina, Nissenkorn, Andreea, Lerman-Sagie, Tally, Ben Zeev, Bruria, Uliel-Sibony, Shimrit
المصدر: In Pediatric Neurology January 2024 150:91-96
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6دورية أكاديمية
المؤلفون: den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander, Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan, Banka, Siddharth, Bena, Frederique, Ben-Zeev, Bruria, Bonagura, Vincent, Bruel, Ange-Line, Brunet, Theresa, Brunner, Han, Chew, Hui, Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David, Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin, Hanebeck, Jennifer, Hehir-Kwa, Jayne, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly, Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad, Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip, Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy, Parker, Michael, Petersen, Andrea, Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill, Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca, Stegmann, Alexander, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-Dos-Santos, Juliana, Schrier Vergano, Samantha, Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne, Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon, Vissers, Lisenka
المصدر: American Journal of Human Genetics. 108(2)
مصطلحات موضوعية: HPO-based analysis, SATB1, cell-based functional assays, de novo variants, intellectual disability, neurodevelopmental disorders, seizures, teeth abnormalities, Chromatin, Female, Genetic Association Studies, Haploinsufficiency, Humans, Male, Matrix Attachment Region Binding Proteins, Models, Molecular, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Protein Binding, Protein Domains, Transcription, Genetic
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/70f7n18h
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7دورية أكاديمية
المؤلفون: Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B., Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bakhtiari, Somayeh, Kruer, Michael C., Salih, Mustafa A., Kuechler, Alma, Muller, Eric A., Blocker, Karli, Kuismin, Outi, Park, Kristen L., Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin D., Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M., Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami A., Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M., Abdulwahab, Firdous, Alkuraya, Fowzan S., Khouj, Ebtissal M., Alvi, Javeria R., Sultan, Tipu, Hashemi, Narges, Karimiani, Ehsan G., Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, Zweier, Christiane
المصدر: In Genetics in Medicine August 2023 25(8)
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8دورية أكاديمية
المؤلفون: von Wintzingerode, Lydia, Ben-Zeev, Bruria, Cesario, Claudia, Chan, Katie M., Depienne, Christel, Elpeleg, Orly, Iascone, Maria, Kelley, Whitley V., Nassogne, Marie-Cécile, Niceta, Marcello, Pezzani, Lidia, Rahner, Nils, Revencu, Nicole, Bekheirnia, Mir Reza, Santiago-Sim, Teresa, Tartaglia, Marco, Thompson, Michelle L., Trivisano, Marina, Hentschel, Julia, Sticht, Heinrich, Abou Jamra, Rami, Oppermann, Henry
المصدر: In Genetics in Medicine July 2023 25(7)
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9دورية أكاديمية
المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad
المصدر: In Molecular Genetics and Metabolism July 2023 139(3)
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10دورية أكاديمية
المؤلفون: Matalon, Noam, Shani, Shachar, Weinberger, Ronnie, Serur, Yaffa, Somech, Raz, Givon, Uri, Katz, Uriel, Levy-Shraga, Yael, Carmel, Eldar, Weiss, Batia, Ben-Zeev, Bruria, Hochberg, Yehonathan, Gur, Raquel E., Gothelf, Doron
المصدر: In Genetics in Medicine June 2023