학술논문
'학술논문'
에서 검색결과 47건 | 목록
1~10
Academic Journal
Carter, M.T.; Srour, M.; Au, P.-Y.B.; Buhas, D.; Dyack, S.; Eaton, A.; Inbar-Feigenberg, M.; Howley, H.; Kawamura, A.; Lewis, S.M.E.; McCready, E.; Nelson, T.N.; Vallance, H.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 June 2023, 60(6):523-532)
Academic Journal
In: European Journal of Paediatric Neurology . (European Journal of Paediatric Neurology, May 2023, 44:46-50)
Academic Journal
Iverson, R.; Taljaard, M.; Pugliese, M.; Tingley, K.; Coyle, D.; Wilson, K.; Little, J.; Potter, B.K.; Geraghty, M.T.; Langley, E.; Yu, A.C.; Chakraborty, P.; Kronick, J.B.; Austin, V.; Inbar-Feigenberg, M.; Mercimek-Andrews, S.; Nagy, L.; Schulze, A.; Sondheimer, N.; Brunel-Guitton, C.; Buhas, D.; Mitchell, J.J.; Trakadis, Y.; Butcher, N.J.; Offringa, M.; Chan, A.K.J.; Jain-Ghai, S.; Siriwardena, K.; Dyack, S.; Goobie, S.; Vandersteen, A.; Greenberg, C.R.; Mhanni, A.; Karp, N.; Prasad, C.; Ratko, S.; Kozenko, M.; MacKenzie, J.; Pender, A.; Potter, M.; Lines, M.; Turner, L.; Wilson, B.J.; Maranda, B.; Salvarinova, R.; Stockler-Ipsiroglu, S.; Tapscott, K.; Van Karnebeek, C.; Sparkes, R.; Walia, J.S.
In: BMC Pediatrics . (BMC Pediatrics, December 2024, 24(1))
Academic Journal
Whittle, E.F.; Karimiani, E.G.; Jamshidi, Y.; Pittman, A.M.; Maroofian, R.; Carroll, C.J.; Chilian, M.; Progri, H.; Yoon, W.H.; Buhas, D.; Kose, M.; Ganetzky, R.D.; Toosi, M.B.; Torbati, P.N.; Badv, R.S.; Shelihan, I.; Yang, H.; Elloumi, H.Z.; Lee, S.; Houlden, H.; Ignatius, E.; Rahman, S.
In: Genetics in Medicine . (Genetics in Medicine, February 2023, 25(2))
Academic Journal
Saida, K.; Takizawa, M.; Ohori, S.; Sekiguchi, F.; Hamanaka, K.; Fujita, A.; Uchiyama, Y.; Mizuguchi, T.; Miyatake, S.; Miyake, N.; Matsumoto, N.; Maroofian, R.; Kaiyrzhanov, R.; Dominik, N.; Houlden, H.; Sengoku, T.; Ogata, K.; Mitani, T.; Marafi, D.; Akay, G.; Pehlivan, D.; Posey, J.E.; Lupski, J.R.; Pagnamenta, A.T.; Zaki, M.S.; Elbendary, H.M.; Rafat, K.; O'Brien, T.J.; Brown, A.E.X.; Karimiani, E.G.; Romy, R.; Carroll, C.J.; Leong, H.Y.; Galehdari, H.; Zamani, M.; Toosi, M.B.; Ashrafzadeh, F.; Imannezhad, S.; Malek, H.; Ahangari, N.; Tomoum, H.; Gowda, V.K.; Srinivasan, V.M.; Murphy, D.; Yilmaz, S.; Kanmaz, S.; Serin, M.; Krishnakumar, D.; Gardham, A.; Maw, A.; Rao, T.S.; Alsubhi, S.; Srour, M.; Buhas, D.; Jewett, T.; Goldberg, R.E.; Shamseldin, H.; Alabdi, L.; Abdulwahab, F.; Alkuraya, F.S.; Frengen, E.; Misceo, D.; Strømme, P.; Magliocco Ceroni, J.R.; Kim, C.A.; Yesil, G.; Sengenc, E.; Guler, S.; Hull, M.; Parnes, M.; Aktas, D.; Anlar, B.; Bayram, Y.; Alavi, S.; Madani Manshadi, S.A.; Alzaidan, H.; Al-Owain, M.; Elshafie, R.M.; Salayev, K.; Guliyeva, U.; Gleeson, J.G.; Monaghan, K.G.; Langley, K.G.; Yang, H.; Motavaf, M.; Safari, S.; Alipour, M.
In: Genetics in Medicine . (Genetics in Medicine, January 2023, 25(1):90-102)
Academic Journal
In: Frontiers in Neurology . (Frontiers in Neurology, 17 October 2022, 13)
Academic Journal
Duncan, C.J.A.; Howarth, S.; Chen, R.; Thompson, B.J.; Stremenova Spegarova, J.; Hatton, C.F.; Whittaker, J.; Hambleton, S.; Skouboe, M.K.; Hollensen, A.K.; Paludan, S.R.; Jørgensen, S.E.; Thomsen, M.K.; Mikkelsen, J.G.; Mogensen, T.H.; Børresen, M.L.; Heilmann, C.; Masmas, T.; Poulsen, A.; Stæger, F.F.; Albrechtsen, A.; Andersen, M.K.; Hansen, T.; Buhas, D.; Zhou, S.; Øbro, N.F.; Bay, J.T.; Marquart, H.V.; Allenspach, E.J.; Teresa de la Morena, M.; Klejka, J.A.; Hirschfeld, M.; Borgwardt, L.; Forss, I.; Noya, F.; Alizadehfar, R.; Rouleau, G.
In: Journal of Experimental Medicine . (Journal of Experimental Medicine, 6 June 2022, 219(6))
Academic Journal
Tseng, L.A.; Wijburg, F.A.; van Karnebeek, C.D.M.; Abdenur, J.E.; Boyer, M.; Andrews, A.; Longo, N.; Aziz, V.G.; Gospe, S.M.; Bok, L.A.; Buhas, D.; Hartmann, H.; Footitt, E.J.; Grønborg, S.; Janssen, M.C.H.; Lunsing, R.J.; MacKenzie, A.E.; Coughlin, C.R.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, April 2022, 135(4):350-356)
Academic Journal
Cruz Marino, T.; Leblanc, J.; Villeneuve, H.; Duranceau, C.; Caron, P.; Morin, C.; Milot, M.; Chrétien, R.; Gagnon, M.-M.; Mathieu, J.; Ellezam, B.; Buhas, D.
In: Endocrine . (Endocrine, January 2022, 75(1):48-58)
Academic Journal
Almuhsen, Najmah; Guay, Simon‐Pierre; Lefrancois, Marie; Gauvin, Cheryl; Bahlani, Al Qasim Al; Ahmed, Najma; Saint‐Martin, Christine; Gagnon, Tommy; Waters, Paula; Braverman, Nancy; Buhas, D.
JIMD Reports. September 2021, Vol. 61 Issue 1, p52, 8 p.
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[AR] Buhas, D.
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