المؤلفون: Engel, Camille^{Aff1, IDs4143102301410z_cor1}, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S., Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line^{Aff12, Aff13}, Brusco, Alfredo, Bubshait, Dalal K., Cabrol, Christelle, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie^{Aff12, Aff13}, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine^{Aff22, Aff23, Aff24}, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph G., Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike L., Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor^{Aff34, Aff35}, Kraus, Dror^{Aff36, Aff37}, Kuentz, Paul^{Aff12, Aff38}, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril^{Aff41, Aff42}, Morris-Rosendahl, Déborah^{Aff43, Aff44}, Nagarajan, Lakshmi^{Aff45, Aff46}, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe^{Aff12, Aff13}, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey^{Aff51, Aff52}, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo^{Aff3, Aff54, Aff55}, Scheffer, Ingrid^{Aff56, Aff57}, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale^{Aff54, Aff55}, Valente, Enza Maria^{Aff59, Aff60}, Venot, Perrine, Villard, Laurent^{Aff20, Aff62}, Vitobello, Antonio^{Aff12, Aff13}, Wagner, Johanna, Wagner, Matias^{Aff11, Aff63, Aff64}, Zaki, Maha S., Zara, Federizo^{Aff54, Aff55}, Lesca, Gaetan^{Aff51, Aff66}, Yassaee, Vahid Reza, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette^{Aff1, Aff12}

المصدر: European Journal of Human Genetics. 31(9):1023-1031

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: Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal^{Aff10, Aff20}, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.^{Aff1, Aff10, Aff20}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(6):1051-1060

المؤلفون: Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed^{Aff2, Aff3}, Al Muhaizea, Mohammad A.^{Aff3, Aff4}, Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I.^{Aff2, Aff3}, Balobaid, Ameera, El Khashab, Heba Y.^{Aff8, Aff9}, Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam^{Aff15, Aff16}, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed^{Aff1, Aff20}, Meyer, Brian F.^{Aff1, Aff20}, Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota^{Aff1, Aff20}, Alkuraya, Fowzan S.^{Aff1, Aff3, Aff6, Aff20}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):736-742

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المؤلفون: Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Alsonbul, Abdullah, Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

المصدر: Human Genetics. August 2017 136(8):921-939

المؤلفون: Albuali, Waleed H, Algamdi, Amal A, Hasan, Elham A, Al-Qahtani, Mohammad H, Yousef, Abdullah A, Al Ghamdi, Mohammad A, Bubshait, Dalal K, Alshahrani, Mohammed S, AlQurashi, Faisal O, Bou Shahmah, Talal A, Awary, Bassam H

المصدر: Journal of Multidisciplinary Healthcare

مصطلحات موضوعية: pediatric risk of mortality score, Journal of Multidisciplinary Healthcare, ventilation, mortality, pediatric intensive care unit, Original Research

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4d2ee3d32863fd21f350e771b2145000
http://europepmc.org/articles/PMC7667207

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