학술논문
'학술논문'
에서 검색결과 73건 | 목록
1~10
Academic Journal
In: Journal of Neuropathology and Experimental Neurology . (Journal of Neuropathology and Experimental Neurology, 1 September 2024, 83(9):722-735)
Academic Journal
Lacombe, D.; Van-Gils, J.; Fergelot, P.; Taupiac, E.; Bloch-Zupan, A.; Bredrup, C.; Cooper, E.B.; Houge, S.D.; García-Miñaúr, S.; Kayserili, H.; Larizza, L.; Lopez Gonzalez, V.; Menke, L.A.; Huisman, S.A.; Hennekam, R.C.; Milani, D.; Meossi, C.; Prada, E.; Saettini, F.; Stevens, C.A.; Tooke, L.; Van Der Zee, J.A.; Van Genderen, M.M.; Waite, J.; Adrien, J.-L.; Bartsch, O.; Bitoun, P.; Bouts, A.H.M.; Cueto-González, A.M.; Valenzuena Palafoll, I.; Dominguez-Garrido, E.; Duijkers, F.A.; Halstead, E.; Mullins, J.; Nikkel, S.M.; Oliver, C.; Rei, A.; Russell, J.; Totaro, N.; Riddle, I.; Wiley, S.; Rodriguez-Fonseca, C.; Rodríguez Pena, R.; Saba, A.; Santos-Simarro, F.; Simpson, B.N.; Smith, D.F.; Stevens, M.F.; Szakszon, K.; Van Der Kaay, D.C.M.; Van Wijk, M.P.; Vyshka, K.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 June 2024, 61(6):503-519)
Academic Journal
de Kock, L.; Cuillerier, A.; Gillespie, M.; Hartley, T.; Mears, W.; Armour, C.M.; Kernohan, K.D.; Boycott, K.M.; Couse, M.; Bernier, F.P.; Innes, A.M.; Lauzon, J.; Thomas, M.; Chudley, A.E.; Frosk, P.; Nikkel, S.M.; Guerin, A.; Weksberg, R.; Scott, J.N.; Watkins, D.; Harvey, S.; Cytrynbaum, C.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2024, 194(3))
Academic Journal
Gourgas, O.; Li, J.; Murshed, M.; Lemire, G.; Eaton, A.L.; Boycott, K.M.; Alshahrani, S.; Duker, A.L.; Carroll, R.S.; Mackenzie, S.; Bober, M.B.; Nikkel, S.M.
In: Nature Communications . (Nature Communications, December 2023, 14(1))
Academic Journal
Batkovskyte, D.; Taylan, F.; Hammarsjö, A.; Lindstrand, A.; Nordgren, A.; Nishimura, G.; Grigelioniene, G.; McKenzie, F.; Simsek-Kiper, P.O.; Utine, G.E.; Boduroglu, K.; Nikkel, S.M.; Ohashi, H.; Shimizu, K.; Stevenson, R.E.; Skinner, S.A.; Moore, H.W.; Louie, R.J.; Merrihew, A.N.; Ha, T.; Arts, P.; Babic, M.; Jackson, M.R.; Scott, H.S.; Cavalcanti, D.P.; Miyahara, H.; Aguirre, M.A.; Akçören, Z.; Chiu, T.; Papadogiannakis, N.; Barnett, C.P.; Chagin, A.S.
In: Journal of Bone and Mineral Research . (Journal of Bone and Mineral Research, May 2023, 38(5):692-706)
Academic Journal
Cornthwaite, M.; Turner, K.; Armstrong, L.; Boerkoel, C.F.; Chang, C.; Lehman, A.; Nikkel, S.M.; Patel, M.S.; Van Allen, M.; Langlois, S.
In: Prenatal Diagnosis . (Prenatal Diagnosis, November 2022, 42(12):1514-1524)
Academic Journal
Gourgas, O.; Li, J.; Murshed, M.; Lemire, G.; Eaton, A.J.; Boycott, K.M.; Alshahrani, S.; Duker, A.L.; Carroll, R.S.; Mackenzie, S.; Bober, M.B.; Nikkel, S.M.
In: Nature Communications . (Nature Communications, December 2024, 15(1))
Academic Journal
In: Prenatal Diagnosis . (Prenatal Diagnosis, March 2021, 41(4):465-477)
Academic Journal
In: Paediatrics and Child Health (Canada) . (Paediatrics and Child Health (Canada), 10 April 2020, 25(3):134-135)
Academic Journal
Elliott, A.M.; du Souich, C.; Lehman, A.; Armstrong, L.; Clarke, L.; Gibson, W.; Gill, H.; Lewis, S.; McKinnon, M.L.; Nikkel, S.M.; Patel, M.; van Allen, M.; Friedman, J.M.; Guella, I.; Evans, D.M.; Candido, T.; Tooman, L.; Farrer, M.J.; Lavoie, P.M.; Solimano, A.; Synnes, A.; Ting, J.; Osiovich, H.; Christilaw, J.
In: European Journal of Pediatrics . (European Journal of Pediatrics, 1 August 2019, 178(8):1207-1218)
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제한된 항목
[AR] Nikkel, S.M.
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