학술논문
'학술논문'
에서 검색결과 408건 | 목록
1~10
Academic Journal
Husain, R.A.; Huppke, P.; Mentzel, H.-J.; Hübner, C.A.; Jiao, X.; Palsule, G.; Hart, R.P.; Kiledjian, M.; Hennings, J.C.; Osmanović, D.; Giesecke, J.; Rubio, I.; Beck-Wödl, S.; Haack, T.B.; Bjørgo, K.; Mir, A.; Ilyas, M.; Abbasi, S.M.; Efthymiou, S.; Dominik, N.; Maroofian, R.; Houlden, H.; Rankin, J.; Pagnamenta, A.T.; Nashabat, M.; Alfadhel, M.; Umair, M.; Altwaijri, W.; Khouj, E.; Alkuraya, F.S.; Reardon, W.; El-Hattab, A.W.; Mekki, M.; Houge, G.; Beetz, C.; Bauer, P.; Putoux, A.; Lesca, G.; Sanlaville, D.; Taylor, R.W.
In: Brain . (Brain, 1 April 2024, 147(4):1197-1205)
Academic Journal
Post, M.A.; Bärenfänger, M.; Lefeber, D.J.; de Wit, I.; Wortmann, S.B.; van Karnebeek, C.D.M.; Zijlstra, F.S.M.; Engelke, U.F.H.; van Rooij, A.; Wessels, H.J.C.T.; Christodoulou, J.; Tan, T.Y.; Le Fevre, A.; Yaplito-Lee, J.; Pitt, J.; Jin, D.; Lee, B.H.; Low, K.J.; Mallick, A.A.; Õunap, K.; Vals, M.-A.; Reardon, W.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, March 2023, 46(2):313-325)
Academic Journal
Radley, J.A.; Sabir, A.; Connolly, M.; McClelland, L.; Kanani, F.; Carley, H.; Jones, R.L.; Hyder, Z.; Gompertz, L.; Reardon, W.; Richardson, R.; Maher, E.R.
In: Clinical Genetics . (Clinical Genetics, September 2021, 100(3):292-297)
Academic Journal
In: Irish Medical Journal . (Irish Medical Journal, June 2021, 114(6))
Academic Journal
Pompeani, D.P.; Steinman, B.A.; Abbott, M.B.; Pompeani, K.M.; Reardon, W.; Depasqual, S.; Mueller, R.H.
In: Radiocarbon . (Radiocarbon, April 2021, 63(2):513-531)
Academic Journal
Polla, D.L.; Huffels, S.C.; van Bokhoven, H.; de Brouwer, A.P.M.; Bhoj, E.J.; Hill-Karfe, K.; Hakonarson, H.; Zackai, E.; Cuddapah, S.; Verheij, J.B.G.M.; Wassink-Ruiter, J.S.K.; Reis, A.; Gregor, A.; Zweier, C.; Deshpande, C.; Silfhout, A.T.V.-V.; Pfundt, R.; Bongers, E.M.H.F.; Leenders, E.K.S.M.; de Vries, B.B.A.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Stumpel, C.T.R.M.; Stegmann, A.P.A.; Wennekes, R.; Reardon, W.; Li, D.; Ragge, N.; Lynch, S.A.
In: Genetics in Medicine . (Genetics in Medicine, April 2021, 23(4):645-652)
Academic Journal
Tripolszki, K.; Hotakainen, R.; Pereira, C.; Rolfs, A.; Bauer, P.; Bertoli-Avella, A.M.; Sasaki, E.; Reardon, W.; Kassim, A.H.
In: Clinical Genetics . (Clinical Genetics, February 2021, 99(2):303-308)
Academic Journal
Bertoli-Avella, A.M.; Beetz, C.; Ameziane, N.; Rocha, M.E.; Guatibonza, P.; Pereira, C.; Calvo, M.; Herrera-Ordonez, N.; Segura-Castel, M.; Diego-Alvarez, D.; Zawada, M.; Kandaswamy, K.K.; Werber, M.; Paknia, O.; Zielske, S.; Ugrinovski, D.; Warnack, G.; Kampe, K.; Iurașcu, M.I.; Cozma, C.; Vogel, F.; Rolfs, A.; Bauer, P.; Alhashem, A.; Hertecant, J.; Al-Shamsi, A.M.; Alswaid, A.F.; Eyaid, W.; Al Mutairi, F.; Alfadhel, M.; Albalwi, M.A.; Alfares, A.; Al-Sannaa, N.A.; Reardon, W.; Alanay, Y.
In: European Journal of Human Genetics . (European Journal of Human Genetics, January 2021, 29(1):141-153)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, December 2020, 182(12):2994-2998)
Academic Journal
Rocha, M.E.; Silveira, T.R.D.; Kandaswamy, K.K.; Beetz, C.; Rolfs, A.; Bauer, P.; Bertoli-Avella, A.M.; Sasaki, E.; Reardon, W.; Sás, D.M.; Lourenço, C.M.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 1 March 2020, 28(3):367-372)
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[AR] Reardon, W.
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