학술논문
'학술논문'
에서 검색결과 92건 | 목록
30~40
Academic Journal
Latour, B.L.; Letteboer, S.J.F.; van Reeuwijk, J.; van Beersum, S.E.C.; Roepman, R.; van de Weghe, J.C.; Gomez, A.; Grout, M.E.; Miller, C.V.; Dempsey, J.C.; Bamshad, M.J.; Doherty, D.; Rusterholz, T.D.S.; Bachmann-Gagescu, R.; Gesemann, M.; Neuhauss, S.C.F.; Shaheen, R.; Alkuraya, F.S.; Karamzade, A.; Asadollahi, M.; Keramatipour, M.; Barroso-Gil, M.; Sayer, J.A.; Chitre, M.; Morsy, H.; Nickerson, D.A.; Boldt, K.; Ueffing, M.
In: Journal of Clinical Investigation . (Journal of Clinical Investigation, 3 August 2020, 140(8):4423-4439)
Academic Journal
Nabil, A.; El Shafei, S.; Morsy, H.; El Shakankiri, N.M.; Habib, A.; Maddirevula, S.; Alkuraya, F.S.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, June 2020, 63(6))
Academic Journal
Shamseldin, H.E.; Shaheen, R.; Ewida, N.; Howaidi, A.; Hashem, M.; Abdulwahab, F.; Ibrahim, N.; Alshidi, T.; AlObeid, E.; Alenazi, M.M.; Alkuraya, F.S.; Bubshait, D.K.; Alkuraya, H.; Almardawi, E.; Meriki, N.; Sabr, Y.; Abdalla, E.M.; Morsy, H.; Alfaifi, A.Y.; Seidahmed, M.Z.; Alghamdi, J.M.; Alsagheir, A.; Alfares, A.; Alhashem, A.; Hussein, M.H.; Al–Muhaizea, M.A.; Shagrani, M.; Al Sabban, E.; Salih, M.A.; Khan, R.; Almugbel, M.; Tulba, M.; Qari, A.; Alzaidan, H.; Rahbeeni, Z.; Al–Owain, M.; Mahnashi, M.; Alhazmi, K.; Alsalamah, A.K.; Nowilaty, S.R.; Sogaty, S.
In: Genetics in Medicine . (Genetics in Medicine, 1 June 2020, 22(6):1051-1060)
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Academic Journal
Chatron, N.; Labalme, A.; Alix, E.; Lesca, G.; Sanlaville, D.; Becker, F.; Lerche, H.; Morsy, H.; Nabil, A.; Schmidts, M.; Najafi, M.; Hardies, K.; Weckhuysen, S.; Tuysuz, B.; Alkaya, D.U.; Gunes, N.; Roselli, S.; Moslemi, A.-R.; Ashrafzadeh, F.; Omar, T.; Hussien, H.; Maroofian, R.; Karimiani, E.G.; Kok, F.; Ramos, L.; Bilguvar, K.; de Bellescize, J.; Poulat, A.-L.; May, P.; Tajsharghi, H.
In: Brain . (Brain, 1 May 2020, 143(5):1447-1461)
Academic Journal
Fassad, M.R.; Patel, M.P.; Mitchison, H.M.; Morsy, H.; Shoemark, A.; Dixon, M.; Ollosson, S.; Carr, S.; Pitno, A.; Hogg, C.; Cullup, T.; Hayward, J.; Jenkins, L.; Rogers, A.V.; Wilson, R.; Loebinger, M.R.; Jackson, C.; Goggin, P.; Thompson, J.; Walker, W.; Lucas, J.S.; Hirst, R.A.; Rutman, A.; O'Callaghan, C.; Aurora, P.; Moya, E.; Chetcuti, P.; Morris-Rosendahl, D.J.; Watson, C.M.; Lopes, S.; Shoman, W.; Fasseeh, N.; Pereira, L.; Constant, C.; Chung, E.M.K.; Kenia, P.; Rumman, N.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 May 2020, 57(5):322-330)
Academic Journal
Fassad, M.R.; Patel, M.P.; Mitchison, H.M.; Morsy, H.; Shoman, W.I.; Fasseeh, N.; Radwan, N.; Fouda, E.; Jenkins, L.; Cullup, T.
In: Clinical Genetics . (Clinical Genetics, 1 March 2020, 97(3):509-515)
Academic Journal
Lee, S.; Chen, D.Y.; McEvoy-Venneri, J.; Stanley, V.; James, K.N.; Gleeson, J.G.; Zaki, M.S.; Maroofian, R.; Karimiani, E.G.; Jamshidi, Y.; Houlden, H.; Di Donato, N.; Abdin, D.; Morsy, H.; Mirzaa, G.M.; Dobyns, W.B.; Mancini, G.M.S.; Schot, R.; Kalayci, T.; Altunoglu, U.; Brick, L.; Kozenko, M.; Manzini, M.C.; Beiraghi Toosi, M.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 October 2019, 105(4):844-853)
Academic Journal
In: Journal of the Egyptian Women's Dermatologic Society . (Journal of the Egyptian Women's Dermatologic Society, September-December 2019, 16(3):164-169)
Academic Journal
In: Dermatologic Therapy . (Dermatologic Therapy, 1 September 2019, 32(5))
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[AR] Morsy, H.
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