المؤلفون: AlAbdi, Lama, Neuhann, Teresa, Prott, Eva-Christina, Schön, Ulrike, Abdulwahab, Firdous, Faqeih, Eissa, Alkuraya, Fowzan S.^{Aff1, IDs0043902402677y_cor7}

المصدر: Human Genetics. 143(6):739-745

المؤلفون: AlAbdi, Lama^{Aff1, Aff2}, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha^{Aff1, Aff2}, Hamid, Halima^{Aff1, Aff2}, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Jaafar, Amal, Alshidi, Tarfa, Al-Owain, Mohammed^{Aff3, Aff4}, Alhashem, Amal^{Aff4, Aff5}, Al Tala, Saeed, Khan, Arif O.^{Aff7, Aff8}, Mardawi, Elham, Alkuraya, Hisham, Faqeih, Eissa, Afqi, Manal, Alkhalifi, Salwa, Rahbeeni, Zuhair, Hagos, Samya T., Al-Ahmadi, Wijdan, Nadeef, Seba, Maddirevula, Sateesh, Khabar, Khalid S. A., Putra, Alexander, Angelov, Angel, Park, Changsook, Reyes-Ramos, Ana M., Umer, Husen, Ullah, Ikram, Driguez, Patrick, Fukasawa, Yoshinori, Cheung, Ming Sin, Gallouzi, Imed Eddine^{Aff17, Aff18}, Alkuraya, Fowzan S.^{Aff2, Aff17, IDs13073023012708_cor39}

المصدر: Genome Medicine. 15(1)

المؤلفون: Gracia-Diaz, Carolina^{Aff1, Aff2}, Zhou, Yijing^{Aff1, Aff2}, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng^{Aff1, Aff2}, Otrimski, Garrett^{Aff1, Aff2}, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance^{Aff11, Aff12}, Jackson, Adam^{Aff13, Aff14}, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L.^{Aff29, Aff30}, de la Cruz, Xavier^{Aff8, Aff31}, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth^{Aff13, Aff14}, French, Deborah L.^{Aff1, Aff2}, Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S.^{Aff17, Aff35}, Agrawal, Pankaj B.^{Aff12, Aff36, Aff37, Aff38}, Reinberg, Danny, Bhoj, Elizabeth J.^{Aff1, Aff9}, Martínez-Balbás, Marian A., Akizu, Naiara^{Aff1, Aff2, IDs41467023396455_cor61}

المصدر: Nature Communications. 14(1)

المؤلفون: Kentab, Amal, Muddathir, H.H., Salih, M.A., Mushiba, Aziza M., Zada, A.P., Bamajboor, Mohammed S., Zameer, Sadique, AlBassam, Fahad, Mahmoud, Adel, Alnawfal, A.A., AlAmr, Mushari, Bawazir, Maryam, Al Rumayyan, Ahmed, Al-Twaijri, Waleed, Alrifai, Muhammed Talal, Al Hajjaj, Sumayah, Saleh, Mohammed M., Hamhom, Abdulrahim M., Al-Otaibi, Ali, AlGhamdi, Malak, Housawi, Yousef, Aljadhai, Yaser I., Alameer, Seham, Almannai, Mohammed, Jad, Lamyaa A., Alwadei, Ali H., Tabassum, Sadia, Alsaman, Abdulaziz, AlAsmari, Ali, Al Mutairi, Fuad, Althiyab, Hamad, Bashiri, Fahad A., AlHumaidi, Suzan, Alfadhel, Majid, Mink, Jonathan W., AlHashim, Aqeela, Faqeih, Eissa A.

المصدر: In Pediatric Neurology June 2024 155:149-155

المؤلفون: Li, Niu, Xu, Yufei, Chen, Hongzhu, Lin, Jingqi, AlAbdi, Lama, Bekheirnia, Mir Reza, Li, Guoqiang, Gofin, Yoel, Bekheirnia, Nasim, Faqeih, Eissa, Chen, Lina, Chang, Guoying, Tang, Jie, Yao, Ruen, Yu, Tingting, Wang, Xiumin, Fu, Wei, Fu, Qihua, Shen, Yiping, Alkuraya, Fowzan S., Machol, Keren, Wang, Jian

المصدر: In eBioMedicine January 2024 99

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المؤلفون: Averdunk, Luisa, Huetzen, Maxim A., Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A., Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L., Antonin, Wolfram, Jachimowicz, Ron D., von Felbert, Verena, Distelmaier, Felix

المصدر: In Genetics in Medicine July 2023 25(7)

المؤلفون: Moreno Traspas, Ricardo^{Aff1, Aff2, IDs41588022011200_cor1}, Teoh, Tze Shin^{Aff1, Aff2}, Wong, Pui-Mun, Maier, Michael, Chia, Crystal Y., Lay, Kenneth, Ali, Nur Ain, Larson, Austin, Al Mutairi, Fuad^{Aff4, Aff5}, Al-Sannaa, Nouriya Abbas, Faqeih, Eissa Ali, Alfadhel, Majid^{Aff4, Aff8}, Cheema, Huma Arshad, Dupont, Juliette, Bézieau, Stéphane, Isidor, Bertrand, Low, Dorrain Yanwen, Wang, Yulan, Tan, Grace, Lai, Poh San, Piloquet, Hugues, Joubert, Madeleine, Kayserili, Hulya, Kripps, Kimberly A., Nahas, Shareef A., Wartchow, Eric P., Warren, Mikako, Bhavani, Gandham SriLakshmi, Dasouki, Majed, Sandoval, Renata, Carvalho, Elisa, Ramos, Luiza, Porta, Gilda, Wu, Bin^{Aff26, Aff27}, Lashkari, Harsha Prasada^{Aff28, Aff29}, AlSaleem, Badr, BaAbbad, Raeda M., Abreu Ferrão, Anabela Natália, Karageorgou, Vasiliki, Ordonez-Herrera, Natalia, Khan, Suliman, Bauer, Peter, Cogne, Benjamin, Bertoli-Avella, Aida M., Vincent, Marie, Girisha, Katta Mohan, Reversade, Bruno^{Aff1, Aff2, Aff15, Aff33, Aff34, IDs41588022011200_cor47}

المصدر: Nature Genetics. 54(8):1214-1226

المؤلفون: Faqeih, Eissa A., Alghamdi, Malak Ali, Almahroos, Marwa A., Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M., Clément, Prouteau, Calame, Daniel G., Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R., Pastore, Annalisa, Peake, Roy W.A., Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A.M.

المصدر: In Genetics in Medicine February 2023 25(2)

المؤلفون: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl AAP, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel AH, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno

المصدر: Nature communications. 11(1)

مصطلحات موضوعية: Organoids, Animals, Zebrafish, Humans, Epilepsy, Syndrome, Oxidoreductases, Pedigree, Kinetics, Genes, Recessive, Alleles, Adolescent, Child, Child, Preschool, Infant, Female, Male, Protein Domains, Loss of Function Mutation, Preschool, Genes, Recessive

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URL الوصول: https://escholarship.org/uc/item/5f80k46t