학술논문
'학술논문'
에서 검색결과 126건 | 목록
1~10
Academic Journal
Stutterd, C.A.; Vanderver, A.; Lockhart, P.J.; Helman, G.; Pope, K.; Uebergang, E.; Love, C.; Delatycki, M.B.; Thorburn, D.; Mackay, M.T.; Peters, H.; Kornberg, A.J.; Patel, C.; Rodriguez-Casero, V.; Waak, M.; Silberstein, J.; Sinclair, A.; Nolan, M.; Field, M.; Davis, M.R.; Fahey, M.; Scheffer, I.E.; Freeman, J.L.; Wolf, N.I.; Taft, R.J.; van der Knaap, M.S.; Simons, C.; Leventer, R.J.
In European Journal of Medical Genetics September 2022 65(9)
Academic Journal
Chandrasekhar, A.; Gross, A.; Bluske, K.; Thorpe, E.; Perry, D.L.; Taft, R.J.; Kesari, A.; Mroczkowski, H.J.; Urraca, N.; Hagelstrom, R.T.; Schonberg, S.A.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2024, 194(3))
Academic Journal
Brown, C.M.; Amendola, L.M.; Chandrasekhar, A.; Kesari, A.; Thorpe, E.; Perry, D.L.; Taft, R.J.; Coffey, A.J.; Hagelstrom, R.T.; Halter, G.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 2024)
Academic Journal
Rehm, H.L.; Lebo, M.S.; Zouk, H.; Alaimo, J.T.; Cohen, A.S.A.; Del Viso, F.; Paolillo, V.K.; Saunders, C.J.; Thiffault, I.; Aradhya, S.; Chen, E.; Hatchell, K.E.; McKnight, D.; Bayrak-Toydemir, P.; Best, H.; Tidwell, T.J.; Brandon, R.; Dyer, L.H.; Kruszka, P.; McWalter, K.; Retterer, K.; Buchan, J.G.; Paolucci, S.A.; Chao, E.C.; Clifford, J.; Harrison, S.M.; Hoang, L.U.; Komala, T.; Pesaran, T.; Radtke, K.; Towne, M.C.; Conlin, L.K.; Das, S.; del Gaudio, D.; Davis, K.W.; Neerman, N.; Stanley, C.; DiVincenzo, C.; Karbassi, I.D.; Eisenberg, M.; Guidugli, L.; Hammer, M.B.; Holt, J.M.; Kelly, M.A.; Kelly, J.M.; Jobanputra, V.; Thomas-Wilson, A.; Kearney, H.M.; Kluge, M.L.; Niu, Z.; Rasmussen, K.J.; Lau, L.; Marshall, C.R.; Meng, Y.; Neckelmann, C.S.; Nagan, N.; Perry, D.; Taft, R.J.; Thomas, B.C.; Thorpe, E.; Spiteri, E.; Szuto, A.; Marshall, C.; Meng, L.; Taft, R.; Ashley, E.; Nakouzi, G.; Shen, W.; Kingsmore, S.; Rehm, H.
In: Genetics in Medicine . (Genetics in Medicine, December 2023, 25(12))
Academic Journal
Sajan, S.A.; Brown, C.M.; Perry, D.L.; Taft, R.J.; Kesari, A.; Davis-Keppen, L.; Burns, K.; Royer, E.; Coleman, J.A.C.; Hilton, B.A.; DuPont, B.R.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, December 2023, 191(12):2831-2836)
Academic Journal
Clause, A.R.; Taylor, J.P.; Rajkumar, R.; Bluske, K.; Bennett, M.; Amendola, L.M.; Bentley, D.R.; Taft, R.J.; Perry, D.L.; Coffey, A.J.; Brown, C.; Brown, M.P.; Buchanan, A.; Burns, B.; Burns, N.J.; Chandrasekhar, A.; Chawla, A.; Golden-Grant, K.; Kesari, A.; Malhotra, A.; Milewski, B.; Sajan, S.A.; Schlachetzki, Z.; Schmidt, S.; Thomas, B.; Thorpe, E.
In: Cell Genomics . (Cell Genomics, 8 February 2023, 3(2))
Academic Journal
In: Frontiers in Education . (Frontiers in Education, 2023, 8)
Academic Journal
Helman, G.; Simons, C.; Zarekiani, P.; Bugiani, M.; van der Knaap, M.S.; Tromp, S.A.M.; Kuijpers, T.W.; Andrews, A.; Botto, L.D.; Bonkowsky, J.L.; Chassevent, A.; Giorgio, E.; Pippucci, T.; Wei, S.; Smith-Hicks, C.; Vaula, G.; Willemsen, M.A.A.P.; Schimmel, M.; Vollert, K.; Shimizu, F.; Kanda, T.; Lynch, M.; Roscioli, T.; Taft, R.J.
In: Annals of Neurology . (Annals of Neurology, November 2022, 92(5):895-901)
Academic Journal
Makay, P.; Mubungu, G.; Ngole, M.; Fuanani, P.; Lukusa, P.; Lumaka, A.; Mupuala, A.; Devriendt, K.; Bluske, K.; Brown, C.; Schmidt, S.A.; Perry, D.L.; Taft, R.J.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, September 2022, 188(9):2825-2831)
Academic Journal
Taylor, J.P.; Malhotra, A.; Burns, N.J.; Clause, A.R.; Brown, C.M.; Burns, B.T.; Chandrasekhar, A.; Schlachetzki, Z.; Bennett, M.; Thorpe, E.; Taft, R.J.; Perry, D.L.; Coffey, A.J.
In: Human Mutation . (Human Mutation, June 2022, 43(6):765-771)
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[AR] Taft, R.J.
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