المؤلفون: Abouelhoda, Mohamed, Almuqati, Noura, Abogosh, Ahmed, Alfraih, Feras, Maddirevula, Sateesh, Alkuraya, Fowzan S.^{Aff2, Aff4, IDs0043902302628z_cor6}

المصدر: Human Genetics. 143(2):125-136

المؤلفون: De Franco, Elisa, Owens, Nick D. L., Montaser, Hossam, Wakeling, Matthew N., Saarimäki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem, Balboa, Diego^{Aff4, Aff5}, Caswell, Richard C., Jennings, Rachel E.^{Aff7, Aff8}, Kvist, Jouni A., Johnson, Matthew B., Muralidharan, Sachin, Ellard, Sian, Wright, Caroline F., Maddirevula, Sateesh, Alkuraya, Fowzan S.^{Aff9, Aff10}, Hanley, Neil A.^{Aff7, Aff8}, Flanagan, Sarah E., Otonkoski, Timo^{Aff2, Aff11, IDs4158802301565x_cor21}, Hattersley, Andrew T.^{Aff1, IDs4158802301565x_cor22}, Imbeault, Michael^{Aff3, IDs4158802301565x_cor23}

المصدر: Nature Genetics. 55(12):2075-2081

المؤلفون: Maddirevula, Sateesh, Shagrani, Mohammad, Ji, Ae-Ri, Horne, Christopher R., Young, Samuel N., Mather, Lucy J., Alqahtani, Mashael, McKerlie, Colin, Wood, Geoffrey, Potter, Paul K., Abdulwahab, Firdous, AlSheddi, Tarfa, van der Woerd, Wendy L., van Gassen, Koen L.I., AlBogami, Dalal, Kumar, Kishwer, Muhammad Akhtar, Ali Syed, Binomar, Hiba, Almanea, Hadeel, Faqeih, Eissa, Fuchs, Sabine A., Scott, John W., Murphy, James M., Alkuraya, Fowzan S.

المصدر: In Genetics in Medicine November 2024 26(11)

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: AlAbdi, Lama^{Aff1, Aff2}, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima^{Aff1, Aff2}, Almulhim, Aisha^{Aff1, Aff2}, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.^{Aff2, Aff4, IDs41467023409093_cor17}

المصدر: Nature Communications. 14(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: Almannai, Mohammed^{Aff1, Aff2, Aff3, IDs00439022025131_cor1}, AlAbdi, Lama^{Aff4, Aff5}, Maddirevula, Sateesh, Alotaibi, Maha, Alsaleem, Badr M., Aljadhai, Yaser I., Alsaif, Hessa S.^{Aff4, Aff9}, Abukhalid, Musaad, Alkuraya, Fowzan S^{Aff4, Aff11, IDs00439022025131_cor9}

المصدر: Human Genetics. 142(3):399-405

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

وصف الملف: application/pdf

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

المؤلفون: Coskun, Serdar^{Aff1, Aff2, IDs1081502202435x_cor1}, Maddirevula, Sateesh, Awartani, Khalid, Aldeery, Meshael, Qubbaj, Wafa, Kashir, Junaid, Alkuraya, Fowzan S.^{Aff2, Aff3}

المصدر: Journal of Assisted Reproduction and Genetics: An Official Journal of the American Society for Reproductive Medicine. 39(3):675-680

المؤلفون: Maddirevula, Sateesh, Alameer, Seham, Ewida, Nour, de Sousa, Mirta Mittelstedt Leal, Bjørås, Magnar, Vågbø, Cathrine Broberg^{Aff3, Aff4}, Alkuraya, Fowzan S^{Aff1, Aff5, IDs0043902102391z_cor7}

المصدر: Human Genetics. 141(2):209-215