المؤلفون: de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, Bryant, Emily, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, Friedman, Jennifer, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, Owens, Joshua, Husami, Ammar, Chaudhari, Bimal, Stone, Brandon, Burns, Katie, Li, Rachel, de Lange, Iris, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, Trimouille, Aurélien, Argilli, Emanuela

المصدر: Journal of Medical Genetics. 60(10)

مصطلحات موضوعية: epilepsy, human genetics, sequence analysis, DNA, Humans, Brain, Genotype, Intellectual Disability, Microcephaly, Periventricular Nodular Heterotopia, Phenotype, Seizures

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7j44m3ns

المؤلفون: Hakami, Wejdan, Thabet, Farah, Alhashem, Amal, Alghamdi, Abdulaziz, Alshahwan, Saad, Alkuraya, Fowzan S., Tabarki, Brahim^{Aff1, IDs10048024007440_cor7}

المصدر: Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. 25(2):79-83

المؤلفون: Abukhaled, Musaad^{Aff1, IDs00431023048865_cor1}, Al Muqbil, Mohammed^{Aff2, Aff3, Aff4}, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan^{Aff7, Aff8, Aff9}, Ben-Omran, Tawfeg^{Aff10, Aff11}, Alfadhel, Majid^{Aff12, Aff13}, Almannai, Mohammed^{Aff12, Aff13}, Alsaleh, Rehab, Tabarki, Brahim

المصدر: European Journal of Pediatrics. 182(6):2535-2545

المؤلفون: Rosenhahn, Erik, O'Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowsan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E. I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M. H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E. X., Maroofian, Reza, Platzer, Konrad

المصدر: American Journal of Human Genetics. 109(8):1421-1435

مصطلحات موضوعية: Acetylcholinesterase, Animals, Drosophila melanogaster, Epilepsy, Loss of Heterozygosity, Microcephaly, Nervous System Malformations, Neurodevelopmental Disorders, Pedigree, animal, genetics, heterozygosity loss, mental disease, nervous system malformation, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-21694
https://doi.org/10.1016/j.ajhg.2022.06.008
https://his.diva-portal.org/smash/get/diva2:1688208/FULLTEXT01.pdf

المؤلفون: Smits, Daphne J.^{Aff1, IDs00439022025113_cor1}, Dekker, Jordy^{Aff1, IDs00439022025113_cor2}, Schot, Rachel, Tabarki, Brahim, Alhashem, Amal, Demmers, Jeroen A. A., Dekkers, Dick H. W., Romito, Antonio, van der Spek, Peter J., van Ham, Tjakko J., Bertoli-Avella, Aida M., Mancini, Grazia M. S.

المصدر: Human Genetics. 142(3):379-397

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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: Alsini, Hanin, Alghamdi, Abdulaziz, Alshafi, Shatha, Hundallah, Khalid, Almehmadi, Sameer, Alsowat, Daad, Al-Yamani, Suad, Almuzaini, Hanin, Alwadie, Ali, Al-Otaibi, Ali, Jad, Lamyaa, Almadhi, Asma, Bashiri, Fahad, Kentab, Amal, Hamad, Muddathir H, Baarmah, Duaa, Alrifaie, Mohammed, Almuqbel, Mohammed, Baradie, Raidah Al, Mir, Ali, Jan, Mohammed, Muthaffar, Osama, Aljabri, Mohammed, Ali, Elsayed, Saeed, Mohammed, Matar, Abeer, Tabarki, Brahim

المصدر: In Seizure: European Journal of Epilepsy April 2023 107:146-154

المؤلفون: Abukhaled, Musaad^{Aff1, IDs00431023050121_cor1}, Al Muqbil, Mohammed^{Aff2, Aff3, Aff4}, Alghamdi, Malak Ali, Hundallah, Khalid, Suleiman, Jehan^{Aff7, Aff8, Aff9}, Ben-Omran, Tawfeg^{Aff10, Aff11}, Alfadhel, Majid^{Aff12, Aff13}, Almannai, Mohammed^{Aff12, Aff13}, Alsaleh, Rehab, Tabarki, Brahim

المصدر: European Journal of Pediatrics. 182(6):2547-2548

المؤلفون: Alsini, Hanin, Alnozha, Aisha, Asmat, Zeeshan, Hundallah, Khalid, Alfadhel, Majid, Tabarki, Brahim

المصدر: In Brain and Development October 2022 44(9):618-622