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, Zuzana^{Aff3, Aff7}, Pecinová, Alena, Ropers, Hans-Hilger^{Aff8, Aff9}, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. Nicole^{Aff12, Aff13}, Prada, Carlos E.^{Aff12, Aff13, Aff14}, Õunap, Katrin^{Aff15, Aff16, Aff17}, Wojcik, Monica H.^{Aff17, Aff18}, Pajusalu, Sander^{Aff15, 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)

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

المؤلفون: Frints, Suzanna G. M.^{Aff1, Aff2}, Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, Bas^{Aff6, Aff7}, Field, Michael, Manouvrier-Hanu, Sylvie^{Aff9, Aff10}, E. Hickey, Scott^{Aff11, Aff12}, Kammoun, Molka, Gripp, Karen W., Bauer, Claudia, Schroeder, Christopher, Toutain, Annick^{Aff15, Aff16}, Mihalic Mosher, Theresa^{Aff11, Aff12, Aff17}, Kelly, Benjamin J., White, Peter^{Aff12, Aff17}, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel C^{Aff12, Aff17}, van Roozendaal, Kees E. P.^{Aff1, Aff2}, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Murray, Lucinda, Haan, Eric^{Aff20, Aff21}, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, Joep^{Aff1, Aff2}, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, Martine^{Aff15, Aff16}, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, Jozef^{Aff20, Aff24}, Golzio, Christelle^{Aff3, Aff25}, Gontan, Cristina, Kalscheuer, Vera M.^Aff26

المصدر: Molecular Psychiatry. 24(11):1748-1768

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

المؤلفون: Hu, Hao^{Aff1, 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, Krystyna^{Aff3, Aff24}, Vahid, Leila Nouri, Tzschach, Andreas^{Aff1, 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-Hilger^{Aff1, Aff21}, Najmabadi, Hossein^{Aff2, Aff22}

المصدر: Molecular Psychiatry. 24(7):1027-1039

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

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1c9b1d9e64915d2b2faf7bde0da5457b
https://research.vumc.nl/en/publications/d1081a11-50ae-4e00-89a7-db8f8dfe0bee

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

Descriptors: Epilepsy, Mental Retardation, Females, Genetics, Seizures, Infants, Autism, Genetic Disorders, Clinical Diagnosis, Child Development, Developmental Delays, Foreign Countries

مصطلحات جغرافية: Australia, Israel

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