학술논문
'학술논문'
에서 검색결과 88건 | 목록
1~10
Academic Journal
Pierpont, E.I.; Moertel, C.; Bennett, A.M.; Schoyer, L.; Stronach, B.; Anschutz, A.; Ellis, M.; Borrie, S.C.; Briggs, B.; Burkitt-Wright, E.; Castel, P.; Cirstea, I.C.; Draaisma, F.; Tiemens, D.; Fear, V.S.; Frone, M.N.; Flex, E.; Gelb, B.D.; Liu, C.Z.; Green, T.; Gripp, K.W.; Khoshkhoo, S.; Kieran, M.W.; Kleemann, K.; Klein-Tasman, B.P.; Kontaridis, M.I.; Kruszka, P.; Leoni, C.; Merchant, N.; Magoulas, P.L.; Prada, C.E.; Rauen, K.A.; Roelofs, R.; Wingbermühle, E.; Rossignol, R.; Sevilla, C.; Sevilla, G.; Sheedy, R.; Stieglitz, E.; Sun, D.; White, F.; Wolf, C.; Zenker, M.; Andelfinger, G.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, April 2024, 194(4))
Academic Journal
Rigter, P.M.F.; Polonia, S.; van Woerden, G.M.; de Konink, C.; Proietti Onori, M.; Veenma, D.C.M.; Hordijk, E.; Jonkers, C.N.; Anderson, L.; Yuseinova, B.; Dunn, M.J.; Stratton, M.M.; Humberson, J.B.; Thomas, M.; Barnes, C.; Prada, C.E.; Weaver, K.N.; Ryan, T.D.; Caluseriu, O.; Conway, J.; Calamaro, E.; Fong, C.-T.; Wuyts, W.; Meuwissen, M.; Beysen, D.; Stark, Z.; Savva, E.; Poulton, C.; McKenzie, F.; Bhoj, E.; Bupp, C.P.; Küry, S.; Bézieau, S.; Mercier, S.; Blevins, A.; Wentzensen, I.M.; Xia, F.; Rosenfeld, J.A.; Hsieh, T.-C.; Krawitz, P.M.; Elbracht, M.; Schulman, H.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 February 2024, 111(2):364-382)
Academic Journal
Serbinski, C.R.; Vanderwal, A.; Chadwell, S.E.; Hopkin, R.J.; Weaver, K.N.; Prada, C.E.; Sanchez, A.I.; Hufnagel, R.B.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, February 2024, 194(2):195-202)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 2024)
Academic Journal
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, January 2024, 141(1))
Academic Journal
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, January 2024, 12(1))
Academic Journal
Accogli, A.; Lin, S.-J.; Huang, K.; Petree, C.; Varshney, G.K.; Severino, M.; Kim, S.-H.; Sonenberg, N.; Rocca, C.; Salpietro, V.; Houlden, H.; Maroofian, R.; Landsverk, M.; Keppen, L.D.; Zaki, M.S.; Al-Maawali, A.; Al-Thihli, K.; Srinivasan, V.M.; Gowda, V.K.; Schaefer, G.B.; Davis, M.; Tonduti, D.; Doneda, C.; Marten, L.M.; Mühlhausen, C.; Gomez, M.; Lamantea, E.; Ghezzi, D.; Mena, R.; Nizon, M.; Cognè, B.; Isidor, B.; Procaccio, V.; Begtrup, A.; Telegrafi, A.; Cui, H.; Schulz, H.L.; Mohr, J.; Biskup, S.; Loos, M.A.; Aráoz, H.V.; Chitre, M.; Raymond, L.; Vogt, J.; Sawyer, L.B.; Basinger, A.A.; Pedersen, S.V.; Østergaard, E.; Pearson, T.S.; Grange, D.K.; Lingappa, L.; McDunnah, P.; Gripp, K.W.; Horvath, R.; Hahn, A.; Jafarnejad, S.M.; Prada, C.E.; Taylor, R.W.; Sissler, M.
In: Genetics in Medicine . (Genetics in Medicine, November 2023, 25(11))
Academic Journal
Denommé-Pichon, A.-S.; Bruel, A.-L.; Chevarin, M.; Overs, A.; Vitobello, A.; Duffourd, Y.; Thauvin-Robinet, C.; Philippe, C.; Collins, S.C.; Thomas, Q.; Weber, M.; Faivre, L.; Yalcin, B.; Palomares-Bralo, M.; Santos-Simarro, F.; Mikhaleva, A.; Wagner, C.; Vancollie, V.E.; Lelliott, C.J.; Prada, C.E.; Pacio-Míguez, M.; Busa, T.; Legius, E.; Bacino, C.A.; Rosenfeld, J.A.; Le Guyader, G.; Egloff, M.; Le Guillou, X.; Mencarelli, M.A.; Renieri, A.; Grosso, S.; Levy, J.; Dozières, B.; Desguerre, I.
In: Genetics in Medicine . (Genetics in Medicine, July 2023, 25(7))
Academic Journal
Doherty, A.C.; Huddleston, D.A.; Horn, P.S.; Gilbert, D.L.; Ratner, N.; Simpson, B.N.; Schorry, E.K.; Aschbacher-Smith, L.; Prada, C.E.
In: Pediatric Neurology . (Pediatric Neurology, June 2023, 143:34-43)
Academic Journal
Mena, R.; Mendoza, E.; Mangano, F.T.; Henrickson, M.; Scott, M.; Defoor, W.R.; Little, K.J.; Ruschman, J.; Prada, C.E.
In: Telemedicine and e-Health . (Telemedicine and e-Health, 1 May 2023, 29(5):674-685)
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[AR] Prada, C.E.
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