المؤلفون: Rius, Rocio, Bennett, Neal, Bhattacharya, Kaustuv, Riley, Lisa, Yüksel, Zafer, Formosa, Luke, Compton, Alison, Dale, Russell, Cowley, Mark, Gayevskiy, Velimir, Al Tala, Saeed, Almehery, Abdulrahman, Ryan, Michael, Thorburn, David, Christodoulou, John, Nakamura, Ken

المصدر: Human Mutation. 43(12)

مصطلحات موضوعية: COX11, OXPHOS, coenzyme Q, mitochondrial disorders, Humans, Mitochondrial Encephalomyopathies, Mitochondrial Diseases, Mitochondria, Adenosine Triphosphate, Copper Transport Proteins, Mitochondrial Proteins, Electron Transport Chain Complex Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6hv00787

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: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

المصدر: Brain. 144(5)

مصطلحات موضوعية: Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3zq3c14v

المؤلفون: Nashabat, Marwan, Al Qahtani, Xena S., Almakdob, Salwa, Altwaijri, Waleed, Ba-Armah, Duaa M., Hundallah, Khalid, Al Hashem, Amal, Al Tala, Saeed, Maddirevula, Sateesh, Alkuraya, Fowzan S., Tabarki, Brahim, Alfadhel, Majid

المصدر: In Seizure: European Journal of Epilepsy July 2019 69:154-172

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

المؤلفون: Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan S^{Aff1, Aff17, Aff18}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(4):420-427

المؤلفون: Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

المصدر: Human Genetics. :1-5

المؤلفون: Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

المصدر: Human Genetics. :1-11

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: Reynolds, John J, Bicknell, Louise S^{Aff2, Aff34}, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem^{Aff13, Aff14}, Al-Aama, Jumana Yousuf^{Aff13, Aff14}, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela^{Aff25, Aff26}, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace^{Aff30, Aff31}, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S^{Aff3, IDng3790_cor59}, Mathew, Christopher G^{Aff6, Aff33, IDng3790_cor60}, Jackson, Andrew P^{Aff2, IDng3790_cor61}, Stewart, Grant S^{Aff1, IDng3790_cor62}

المصدر: Nature Genetics. 49(4):537-549