학술논문
'학술논문'
에서 검색결과 44건 | 목록
1~10
Academic Journal
Fellows, B.J.; Ruegg, M.S.G.; Knapp, K.M.; Bicknell, L.S.; Tolezano, G.C.; Pires, S.F.; Krepischi, A.C.V.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2024, 194(3))
Academic Journal
Karayol, R.; Namasivayam, A.; Shvedunova, M.; Akhtar, A.; Borroto, M.C.; Rousseau, J.; Campeau, P.M.; Haghshenas, S.; Levy, M.A.; Relator, R.; Kerkhof, J.; McConkey, H.; Sadikovic, B.; Reilly, J.; Petersen, A.K.; Magnussen, K.; Zweier, C.; Vasileiou, G.; Reis, A.; Savatt, J.M.; Mulligan, M.R.; Bicknell, L.S.; Poke, G.; Abu-El-Haija, A.; Duis, J.; Kierstein, J.; Hannig, V.; Srivastava, S.; Barkoudah, E.; Hauser, N.S.; van den Born, M.; Hamiel, U.; Baris Feldman, H.; Henig, N.; McKee, S.; McConnell, V.; Krapels, I.P.C.; Lei, Y.; Todorova, A.; Atemin, S.; Yordanova, R.; Chassevent, A.; Rogac, M.; Barañano, K.W.; Shashi, V.; Sullivan, J.A.; Iascone, M.; Canevini, M.P.; Friedman, J.; Reyes, I.A.; Shen, J.J.; Ahmed, F.N.; Mao, X.; Almoguera, B.; Blanco-Kelly, F.; Platzer, K.; Treu, A.-B.; Quilichini, J.; Bourgois, A.; Chatron, N.; Januel, L.; Rougeot, C.; Carere, D.A.; Monaghan, K.G.; Myers, K.A.; Peron, A.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2024)
Academic Journal
Schoch, K.; Shashi, V.; Ruegg, M.S.G.; Fellows, B.J.; Brown, C.M.; Bicknell, L.S.; Cao, J.; Uhrig, S.; Einsele-Scholz, S.; Biskup, S.; Hawarden, S.R.A.; Salpietro, V.; Capra, V.; Accogli, A.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 2024)
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome
Academic Journal
In: European Journal of Human Genetics . (European Journal of Human Genetics, October 2022, 30(10):1178-1181)
Academic Journal
Tessadori, F.; Bakkers, J.; Duran, K.; van Haaften, G.; Knapp, K.; Fellner, M.; Mace, P.D.; Bicknell, L.S.; Smithson, S.; Beleza Meireles, A.; Elting, M.W.; Waisfisz, Q.; O'Donnell-Luria, A.; van de Kamp, J.M.; Weiss, J.M.M.; Nowak, C.; Douglas, J.; Ronan, A.; Brunet, T.; Kotzaeridou, U.; Svihovec, S.; Saenz, M.S.; Thiffault, I.; Del Viso, F.; Devine, P.; Rego, S.; Tenney, J.; van Haeringen, A.; Ruivenkamp, C.A.L.; Koene, S.; Bijlsma, E.; Robertson, S.P.; Deshpande, C.; Pfundt, R.; Verbeek, N.; Ruiz, A.; Gabau, E.; Banne, E.; Pepler, A.; Bottani, A.; Laurent, S.; Guipponi, M.; Bruel, A.-L.; Sorlin, A.; Willis, M.; Powis, Z.; Smol, T.; Vincent-Delorme, C.; Baralle, D.; Colin, E.; Revencu, N.; Calpena, E.; Wilkie, A.O.M.; Chopra, M.; Cormier-Daire, V.; Keren, B.; Afenjar, A.; Niceta, M.; Tartaglia, M.; Terracciano, A.; Specchio, N.; Rio, M.; Barcia, G.; Rondeau, S.; Colson, C.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 April 2022, 109(4):750-758)
Academic Journal
Knapp, K.M.; Jenkins, D.E.; Sullivan, R.; Bicknell, L.S.; Harms, F.L.; von Elsner, L.; Kutsche, K.; Ockeloen, C.W.; de Munnik, S.; Bongers, E.M.H.F.; Murray, J.; Pachter, N.; Denecke, J.
In: European Journal of Human Genetics . (European Journal of Human Genetics, July 2021, 29(7):1110-1120)
Academic Journal
In: European Journal of Human Genetics . (European Journal of Human Genetics, November 2023, 31(11):1209-1217)
Academic Journal
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, April 2021, 64(4))
Academic Journal
Blakes, A.J.M.; Baralle, D.; Douglas, A.G.L.; Gaul, E.; Chase, A.; Lam, W.; Shannon, N.; Knapp, K.M.; Bicknell, L.S.; Jackson, M.R.; Wade, E.M.; Robertson, S.; White, S.M.; Heller, R.
In: European Journal of Human Genetics . (European Journal of Human Genetics, April 2021, 29(4):593-603)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2021, 185(3):871-876)
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제한된 항목
[AR] Bicknell, L.S.
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