학술논문
'학술논문'
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Academic Journal
Jonathan Shintaku; Wolfgang M. Pernice; Wafaa Eyaid; Jeevan B. GC; Zuben P. Brown; Marti Juanola-Falgarona; Javier Torres-Torronteras; Ewen W. Sommerville; Debby M.E.I. Hellebrekers; Emma L. Blakely; Alan Donaldson; Ingrid van de Laar; Cheng-Shiun Leu; Ramon Marti; Joachim Frank; Kurenai Tanji; David A. Koolen; Richard J. Rodenburg; Patrick F. Chinnery; H.J.M. Smeets; Gráinne S. Gorman; Penelope E. Bonnen; Robert W. Taylor; Michio Hirano
The Journal of Clinical Investigation, Vol 132, Iss 13 (2022)
Academic Journal
In: Journal of Medical Case Reports . (Journal of Medical Case Reports, December 2024, 18(1))
Academic Journal
Alrifai, M.T.; Alrumayyan, Y.; Baarmah, D.; Alrumayyan, A.; Altuwaijri, W.; AlMuqbil, M.; Eyaid, W.; Swaid, A.; Almutairi, F.; Alfadhel, M.
In: Journal of Child Neurology . (Journal of Child Neurology, May 2024, 39(5-6):209-217)
Academic Journal
Kaiyrzhanov, R.; Lau, T.; Efthymiou, S.; Salpietro, V.; Houlden, H.; Maroofian, R.; Rad, A.; Vona, B.; Lin, S.-J.; Huang, K.; Petree, C.; Varshney, G.K.; Bertoli-Avella, A.; Aanicai, R.; Basto, J.P.; Bauer, P.; Beetz, C.; Khan, S.; Rocha, M.E.; Kallemeijn, W.W.; Baggelaar, M.P.; Tate, E.W.; Godwin, A.; Guille, M.; Zaki, M.S.; Karimiani, E.G.; Jamshidi, Y.; Hempel, M.; Kortüm, F.; Normand, E.A.; Rudnik-Schöneborn, S.; Schatz, U.A.; Ilyas, M.; Sultan, T.; Alvi, J.R.; Ganieva, M.; Asilova, N.; Ibrohimov, S.; Isrofilov, M.; Fowler, B.; Tayfun, G.A.; Saman, A.A.; Alswaid, A.; Amiri, N.; Shotelersuk, V.; Yeetong, P.; Azam, M.; Babaei, M.; Monajemi, G.B.; Samie, S.; Mohammadi, P.; Garshasbi, M.; Banu, S.H.; Zaman, M.; Bauer, M.; Vazquez, D.; Issa, A.H.; Eyaid, W.; Ahmed, H.; Hashemi, N.; Hassanpour, K.; Herman, I.; Pehlivan, D.; Mitani, T.; Lupski, J.R.; Abdul-Majeed, B.A.; Imdad, M.; Kaiyal, Q.; Kirmse, B.; Koster, J.; Waterham, H.R.; Lourenço, C.M.; Moldovan, O.; Murphy, D.; Bhatia, K.P.; Najafi, M.; Schmidts, M.; Mahroum, M.; Shalata, A.; Talbeya, J.K.; Taylor, R.W.; Vetro, A.; Guerrini, R.; Schrader, T.A.; Schrader, M.; Chung, W.K.; Gleeson, J.; Suri, M.; Severino, M.
In: Brain . (Brain, 1 April 2024, 147(4):1436-1456)
Academic Journal
Shen, Jun; Gilmore, Edward C; Marshall, Christine A; Haddadin, Mary; Reynolds, John J; Eyaid, Wafaa; Bodell, Adria; Barry, Brenda; Gleason, Danielle; Allen, Kathryn; Ganesh, Vijay S; Chang, Bernard S; Grix, Arthur; Hill, R Sean; Topcu, Meral; Caldecott, Keith W; Barkovich, A James; Walsh, Christopher A
Nature Genetics. 42(3)
Academic Journal
Williams, M.; Valayannopoulos, V.; Altassan, R.; Chung, W. K.; Heijboer, A. C.; Keng, W. T.; Lapatto, R.; McClean, P.; Mulder, M. F.; Tylki-Szymańska, A.; Walenkamp, M. J. E.; Alfadhel, M.; Alakeel, H.; Salomons, G. S.; Eyaid, W.; Wamelink, M. M. C.
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-11
Academic Journal
Khan, A.; Al Shamsi, B.; Al Shehhi, M.; Al Balushi, A.; Kashgari, A.A.; Manal, A.; Eyaid, W.; Al Dihan, F.A.; Alghamdi, M.A.; González-Álvarez, A.C.; Arold, S.T.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, March 2024, 12(3))
Academic Journal
Anazi, S; Maddirevula, S; Faqeih, E; Alsedairy, H; Alzahrani, F; Shamseldin, H E; Patel, N; Hashem, M; Ibrahim, N; Abdulwahab, F; Ewida, N; Alsaif, H S; Al sharif, H; Alamoudi, W; Kentab, A; Bashiri, F A; Alnaser, M; AlWadei, A H; Alfadhel, M; Eyaid, W; Hashem, A; Al Asmari, A; Saleh, M M; AlSaman, A; Alhasan, K A; Alsughayir, M; Al Shammari, M; Mahmoud, A; Al-Hassnan, Z N; Al-Husain, M; Osama Khalil, R; Abd El.Meguid, N; Masri, A; Ali, R; Ben-Omran, T; El.Fishway, P; Hashish, A; Ercan Sencicek, A; State, M; Alazami, A M; Salih, M A; Altassan, N; Arold, S T; Abouelhoda, M; Wakil, S M; Monies, D; Shaheen, R; Alkuraya, F S
Molecular Psychiatry. 22(4):615-624
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Academic Journal
Alharby, Essa; Faqeih, Eissa A.; Saleh, Mohammed; Alameer, Seham; Almuntashri, Makki; Pastore, Annalisa; Samman, Manar A.; Alnawfal, Abdullah M.; Hashem, Mais; Zaytuni, Dimah; Alharbi, Ghadeer; Almannai, Mohammed; Alasmari, Ali; Mahmoud, Adel A.; Alwadei, Ali H.; Jad, Lamya; AlOtaibi, Ali; Al-Hakami, Fahad; Eyaid, Wafaa; Alkuraya, Fowzan S.; Alfadhel, Majid; Peake, Roy W. A.; Almontashiri, Naif A. M.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(12):2071-2080
Academic Journal
Alaamery, M.; Massadeh, S.; Alahmed, O.; Albesher, N.; Aljawini, N.; Aldarwish, M.; Eyaid, W.; Kashgari, A.; Walsh, C.A.
In: Frontiers in Genetics . (Frontiers in Genetics, 2023, 14)
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