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1دورية أكاديمية
المؤلفون: Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W., Blakely, Emma L., Collier, Jack J., Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J.Aff3, Aff4, McBride, Kim L., Bowden, Sasigarn A., Korandová, ZuzanaAff3, Aff7, Pecinová, Alena, Ropers, Hans-HilgerAff8, Aff9, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. NicoleAff12, Aff13, Prada, Carlos E.Aff12, Aff13, Aff14, Õunap, KatrinAff15, Aff16, Aff17, Wojcik, Monica H.Aff17, Aff18, Pajusalu, SanderAff15, Aff16, Aff19, Syeda, Safoora B., Pais, Lynn, Estrella, Elicia A., Bruels, Christine C., Kunkel, Louis M., Kang, Peter B.Aff20, Aff23, Aff24, Bonnen, Penelope E., Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S., Falkenberg, Maria, Gustafsson, Claes M.Aff2, Taylor, Robert W.Aff1
المصدر: Nature Communications. 12(1)
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2دورية أكاديمية
المؤلفون: Vulto-van Silfhout, Anneke T, Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A, Hu, Hao, Bienek, Melanie, Vissers, Lisenka ELM, Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B, Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K, Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M, Yntema, Helger G, Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert BA, Brunner, Han G, van Bokhoven, Hans, Raymond, F Lucy, Willemsen, Michèl AAP, Chelly, Jamel, Xiong, Yue, Barkovich, A James, Kalscheuer, Vera M, Kleefstra, Tjitske, de Brouwer, Arjan PM
المصدر: Human Mutation. 36(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Pediatric, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Brain, Cell Cycle Proteins, Cells, Cultured, Child, Child, Preschool, Cullin Proteins, Genetic Association Studies, HEK293 Cells, Humans, Infant, Male, Malformations of Cortical Development, Mental Retardation, X-Linked, Middle Aged, Nerve Tissue Proteins, Pedigree, Sequence Analysis, DNA, Young Adult, CUL4B, WDR62, cortical dysplasia, hydrocephalus, intellectual disability, mutation, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7h5466vk
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3دورية أكاديمية
المؤلفون: Frints, Suzanna G. M.Aff1, Aff2, Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, BasAff6, Aff7, Field, Michael, Manouvrier-Hanu, SylvieAff9, Aff10, E. Hickey, ScottAff11, Aff12, Kammoun, Molka, Gripp, Karen W., Bauer, Claudia, Schroeder, Christopher, Toutain, AnnickAff15, Aff16, Mihalic Mosher, TheresaAff11, Aff12, Aff17, Kelly, Benjamin J., White, PeterAff12, Aff17, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel CAff12, Aff17, van Roozendaal, Kees E. P.Aff1, Aff2, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Murray, Lucinda, Haan, EricAff20, Aff21, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, JoepAff1, Aff2, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, MartineAff15, Aff16, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, JozefAff20, Aff24, Golzio, ChristelleAff3, Aff25, Gontan, Cristina, Kalscheuer, Vera M.Aff26
المصدر: Molecular Psychiatry. 24(11):1748-1768
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4دورية أكاديمية
المؤلفون: Jensen, Lars R., Garrett, Lillian, Hölter, Sabine M., Rathkolb, Birgit, Rácz, Ildikó, Adler, Thure, Prehn, Cornelia, Hans, Wolfgang, Rozman, Jan, Becker, Lore, Aguilar-Pimentel, Juan Antonio, Puk, Oliver, Moreth, Kristin, Dopatka, Monika, Walther, Diego J., von Bohlen und Halbach, Viola, Rath, Matthias, Delatycki, Martin, Bert, Bettina, Fink, Heidrun, Blümlein, Katharina, Ralser, Markus, Van Dijck, Anke, Kooy, Frank, Stark, Zornitza, Müller, Sabine, Scherthan, Harry, Gecz, Jozef, Wurst, Wolfgang, Wolf, Eckhard, Zimmer, Andreas, Klingenspor, Martin, Graw, Jochen, Klopstock, Thomas, Busch, Dirk, Adamski, Jerzy, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabě, von Bohlen und Halbach, Oliver, Ropers, Hans-Hilger, Kuss, Andreas W.
المصدر: In BBA - Molecular Basis of Disease 1 September 2019 1865(9):2083-2093
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5دورية أكاديمية
المؤلفون: Hu, HaoAff1, Aff23, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Herwig, Ralf, Hosseini, Masoumeh, Oppitz, Cornelia, Abedini, Seyedeh Sedigheh, Suckow, Vanessa, Larti, Farzaneh, Beheshtian, Maryam, Lipkowitz, Bettina, Akhtarkhavari, Tara, Mehvari, Sepideh, Otto, Sabine, Mohseni, Marzieh, Arzhangi, Sanaz, Jamali, Payman, Mojahedi, Faezeh, Taghdiri, Maryam, Papari, Elaheh, Soltani Banavandi, Mohammad Javad, Akbari, Saeide, Tonekaboni, Seyed Hassan, Dehghani, Hossein, Ebrahimpour, Mohammad Reza, Bader, Ingrid, Davarnia, Behzad, Cohen, Monika, Khodaei, Hossein, Albrecht, Beate, Azimi, Sarah, Zirn, Birgit, Bastami, Milad, Wieczorek, Dagmar, Bahrami, Gholamreza, Keleman, KrystynaAff3, Aff24, Vahid, Leila Nouri, Tzschach, AndreasAff1, Aff25, Gärtner, Jutta, Gillessen-Kaesbach, Gabriele, Varaghchi, Jamileh Rezazadeh, Timmermann, Bernd, Pourfatemi, Fatemeh, Jankhah, Aria, Chen, Wei, Nikuei, Pooneh, Kalscheuer, Vera M., Oladnabi, Morteza, Wienker, Thomas F., Ropers, Hans-HilgerAff1, Aff21, Najmabadi, HosseinAff2, Aff22
المصدر: Molecular Psychiatry. 24(7):1027-1039
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6دورية أكاديمية
المؤلفون: Hemberger, Myriam, Cross, James C., Ropers, Hans-Hilger, Lehrach, Hans, Fundele, Reinald, Himmelbauer, Heinz
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2001 Nov 01. 98(23), 13126-13131.
URL الوصول: https://www.jstor.org/stable/3057051
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7دورية أكاديمية
المؤلفون: Schweiger, Susann, Foerster, John, Lehmann, Tanja, Suckow, Vanessa, Muller, Yves A., Walter, Gerald, Davies, Theresa, Porter, Helen, van Bokhoven, Hans, Lunt, Peter W., Traub, Peter, Ropers, Hans-Hilger
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1999 Mar . 96(6), 2794-2799.
URL الوصول: https://www.jstor.org/stable/47442
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8
المؤلفون: Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.
المساهمون: Human genetics
المصدر: Human Genetics and Genomics Advances, 3(4):100122. Cell Press
Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, M H, Bergant, G, Peterlin, B, Pušenjak, M Š, Jayakar, P, Pfundt, R, Jansen, S, McWalter, K, Sidhu, A, Saliganan, S, Agolini, E, Jacob, A, Pasquier, J, Arash, R, Kahrizi, K, Najmabadi, H, Ropers, H-H & Bhoj, E J 2022, ' Erratum : Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (Human Genetics and Genomics Advances (2021) 2(2), (S2666247721000051), (10.1016/j.xhgg.2021.100024)) ', Human Genetics and Genomics Advances, vol. 3, no. 4, 100122 . https://doi.org/10.1016/j.xhgg.2022.100122 -
9دورية أكاديمية
المؤلفون: Scheffer, Ingrid E., Turner, Samantha J., Dibbens, Leanne M., Bayly, Marta A., Friend, Kathryn, Hodgson, Bree, Burrows, Linda, Shaw, Marie, Wei, Chen, Ullmann, Reinhard, Ropers, Hans-Hilger, Szepetowski, Pierre, Haan, Eric, Mazarib, Aziz, Afawi, Zaid, Neufeld, Miriam Y., Andrews, P. Ian, Wallace, Geoffrey, Kivity, Sara, Lev, Dorit, Lerman-Sagie, Tally, Derry, Christopher P., Korczyn, Amos D., Gecz, Jozef, Mulley, John C., Berkovic, Samuel F.
المصدر: Brain. 2008 131(4):918-927.
Peer Reviewed: Y
Page Count: 10
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10دورية أكاديمية
المؤلفون: Pak, ChangHui, Garshasbi, Masoud, Kahrizi, Kimia, Gross, Christina, Apponi, Luciano H., Noto, John J., Kelly, Seth M., Leung, Sara W., Tzschach, Andreas, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Mohseni, Marzieh, Jensen, Lars R., Hu, Hao, Huang, Brenda, Stahley, Sara N., Liu, Guanglu, Williams, Kathryn R., Burdick, Sharon, Feng, Yue, Sanyal, Subhabrata, Bassell, Gary J., Ropers, Hans-Hilger, Najmabadi, Hossein, Corbett, Anita H., Moberg, Kenneth H., Kuss, Andreas W.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2011 Jul . 108(30), 12390-12395.
URL الوصول: https://www.jstor.org/stable/27979012