المؤلفون: Berger, Tal David^{Aff1, IDs00431024056683_cor1}, Fogel Berger, Chen, Gara, Sewar, Ben-Zeev, Bruria^{Aff2, Aff3}, Weiss, Batia^{Aff1, Aff2}

المصدر: European Journal of Pediatrics. :1-7

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

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

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

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

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

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)

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)

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)

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