학술논문
'학술논문'
에서 검색결과 160건 | 목록
1~10
Academic Journal
Khalaf-Nazzal, R.; Dweikat, I.; Ubeyratna, N.; Fasham, J.; Leslie, J.; Gunning, A.; Voutsina, N.; Owens, M.; Baple, E.L.; Crosby, A.H.; Rawlins, L.E.; Turnpenny, P.; Alawneh, M.; Maree, M.; Zayed, D.Z.; Sawafta, R.; McGavin, L.; Baker, W.; Al-Hijawi, F.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 2024)
Academic Journal
Marwan, M.; Dawood, M.; Khan, N.; Hassan, M.T.; Karam, M.; Saleha, S.; Ullah, M.; Shah, I.U.; Rawlins, L.E.; Baple, E.L.; Crosby, A.H.
In: BMC Ophthalmology . (BMC Ophthalmology, December 2023, 23(1))
Academic Journal
Fasham, J.; Leslie, J.S.; Ubeyratna, N.; Wakeling, M.N.; Turnpenny, P.D.; Crosby, A.H.; Baple, E.L.; Huebner, A.K.; Liebmann, L.; Kryeziu, N.; Hübner, C.A.; Khalaf-Nazzal, R.; Dweikat, I.; Maroofian, R.; Houlden, H.; Wortmann, S.B.; Mancini, G.M.S.; Van Slegtenhorst, M.; Wilke, M.; Haack, T.B.; Shamseldin, H.E.; Alkuraya, F.S.; Gleeson, J.G.; Almuhaizea, M.; Abu-Libdeh, B.; Daana, M.; Zaki, M.S.; Mcgavin, L.; Schlattmann, P.; Kaila, K.
In: Brain . (Brain, 1 November 2023, 146(11):4547-4561)
Academic Journal
Levitin, M.O.; Sanchez-Andrade, G.; Arshad, O.A.; Andersson, M.H.L.; Cambridge, E.L.; Coomber, E.L.; Ironfield, H.; Neaverson, A.; Rowley, C.; Relton, E.; Sanderson, M.; Tuck, L.; Day, A.; Hunter, A.; Patel, M.; Lelliott, C.J.; Logan, D.W.; Hurles, M.E.; Gerety, S.S.; Rawlins, L.E.; Crosby, A.H.; Baple, E.L.; Collins, S.C.; Yalcin, B.; Sawiak, S.J.; Iffland, P.H.; Crino, P.B.; Bupp, C.; Ellis, I.; Herkert, J.C.; van Ravenswaaij-Arts, C.; Jory, L.; Tonks, J.; Kretz, P.F.; Kant, S.G.; Nibbeling, E.; Scott, E.M.; Wenger, O.; Stewart, H.; Shuen, A.Y.; Schreiber, J.; Terkelsen, T.; Vasudevan, P.; Wright, M.
In: Brain . (Brain, 1 November 2023, 146(11):4766-4783)
Academic Journal
Lin, S.; Leslie, J.S.; Harlalka, G.V.; Crosby, A.H.; Baple, E.L.; Sanchez-Bretaño, A.; Lee, H.; Ratnayaka, J.A.; Norman, C.S.; Self, J.E.; Williams, K.B.; Deline, J.; Hammond, S.; Thomas, N.S.; Callaway, J.; Baralle, D.; Schmitt, M.A.; Ennis, S.; Cross, H.E.; Wenger, O.
In: npj Genomic Medicine . (npj Genomic Medicine, December 2022, 7(1))
Academic Journal
Khalaf-Nazzal, R.; Fasham, J.; Leslie, J.S.; Wakeling, M.N.; Ubeyratna, N.; Turnpenny, P.D.; Crosby, A.H.; Baple, E.L.; Inskeep, K.A.; Stottmann, R.W.; Blizzard, L.E.; Pena, L.; Spaeth, C.G.; Mitani, T.; Pehlivan, D.; Akdemir, Z.C.; Posey, J.E.; Lupski, J.R.; Griffith, J.L.; Baker, W.; Al-Hijawi, F.; Keough, K.C.; Gezdirici, A.; Walsh, J.R.; Ray, R.; Neilson, A.; Kouranova, E.; Cui, X.; Curiel, D.T.; Dobyns, W.B.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 November 2022, 109(11):2068-2079)
Academic Journal
Sala-Gaston, J.; Pedrazza, L.; Martinez-Martinez, A.; Ventura, F.; Rosa, J.L.; Ramirez, J.; Mayor, U.; Rawlins, L.E.; Baple, E.L.; Crosby, A.H.
In: Cellular and Molecular Life Sciences . (Cellular and Molecular Life Sciences, November 2022, 79(11))
Academic Journal
Leslie, J.S.; Rawlins, L.; Kennedy, J.; Ubeyratna, N.; Fasham, J.; Crosby, A.H.; Baple, E.L.; Hjeij, R.; Koenig, J.; George, S.; Omran, H.; Vivante, A.; Pode-Shakked, B.; Bolkier, Y.; Barel, O.; Anikster, Y.; Bearce, E.A.; Irons, Z.H.; Craig, S.B.; Grimes, D.T.; Dyer, L.; Norris, D.P.; Wang, J.; Frederiksen, K.K.; Lorentzen, E.; Mane, S.; Wenger, O.; Scott, E.; Cross, H.E.
In: Genetics in Medicine . (Genetics in Medicine, November 2022, 24(11):2249-2261)
Academic Journal
Tábara, L.C.; Protasoni, M.; Johnson, M.; Kunji, E.R.S.; Prudent, J.; Al-Salmi, F.; Kennedy, J.; Day, J.O.; Leslie, J.S.; Salter, C.G.; Rawlins, L.E.; Fasham, J.; Voutsina, N.; Harrold, L.; Crosby, A.H.; Baple, E.L.; Maroofian, R.; Houlden, H.; Al-Futaisi, A.M.; Al-Murshedi, F.; Al-Maawali, A.; Courtin, T.; Charles, P.; Keren, B.; Al-Khayat, A.; Galedari, H.; Mazaheri, N.; Vona, B.; Jelodar, G.; Sedaghat, A.; Shariati, G.
In: Brain . (Brain, 1 September 2022, 145(9):3095-3107)
Academic Journal
Ma, Y.; Wang, X.; Shoshany, N.; Jiao, X.; Lee, A.; Hejtmancik, J.F.; Ku, G.; Baple, E.L.; Fasham, J.; Crosby, A.H.; Nadeem, R.; Naeem, M.A.; Riazuddin, S.; Riazuddin, S.A.
In: Frontiers in Genetics . (Frontiers in Genetics, 22 March 2022, 13)
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[AR] Crosby, A.H.
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