학술논문
'학술논문'
에서 검색결과 67건 | 목록
1~10
Academic Journal
Brugmann, S.A.; Clouthier, D.E.; Fantauzzo, K.A.; Harris, M.P.; Jeong, J.; Saint-Jeannet, J.-P.; Stottmann, R.W.; Merrill, A.E.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 2024)
Academic Journal
De Sainte Agathe, J.-M.; Keren, B.; Miao, T.; Leguern, E.; Pode-Shakked, B.; Weaver, K.N.; Owens, J.W.; Husami, A.; Stottmann, R.W.; Naudion, S.; Michaud, V.; Arveiler, B.; Fergelot, P.; Trimouille, A.; Delmas, J.; Poirsier, C.; Alkuraya, F.S.; Tabarki, B.; Bend, E.; Davis, K.; Bebin, M.; Thompson, M.L.; Bryant, E.M.; Wagner, M.; Hannibal, I.; Lenberg, J.; Krenn, M.; Wigby, K.M.; Friedman, J.R.; Iascone, M.; Cereda, A.; Argilli, E.; Sherr, E.; Caluseriu, O.; Tidwell, T.; Bayrak-Toydemir, P.; Hagedorn, C.; Brugger, M.; Vill, K.; Morneau-Jacob, F.-D.; Chung, W.; Chaudhari, B.P.; Stone, B.S.; Burns, K.; Li, R.; De Lange, I.M.; Biehler, M.; Gérard, B.; Ginglinger, E.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 October 2023, 60(10):999-1005)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, July 2023, 191(7):1994-2002)
Academic Journal
Smallwood, K.; Baltrunaite, K.; Brunswick, C.; Capannari, C.; Weaver, K.N.; Watt, K.E.N.; Trainor, P.A.; Ide, S.; Maeshima, K.; Inskeep, K.; Stottmann, R.W.; Adam, M.P.; Gallagher, E.R.; Wenger, T.; Begtrup, A.; Guillen Sacoto, M.J.; McWalters, K.; Person, R.; Schnur, R.; Bertola, D.R.; Demmer, L.; Demo, E.; Devinsky, O.; Jech, R.; Keren, B.; Whalen, S.; Kussmann, J.; Sullivan, B.R.; Ladda, R.; Sell, S.L.; Lansdon, L.A.; Saunders, C.J.; Lunke, S.; Raiti, L.; Stark, Z.; White, S.M.; Mardy, A.; Saitoh, N.; Skorvanek, M.; Slavotinek, A.; Symonds, J.D.; Weber, S.; Winkelmann, J.; Zech, M.; Zeidler, S.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 May 2023, 110(5):809-825)
Academic Journal
Strong, A.; Li, D.; Gold, J.; Hakonarson, H.; Bhoj, E.; Vaccaro, C.; Wang, X.; Watson, D.; Diamond, T.; Loomes, K.; Piccoli, D.; Rao, S.; Cox, L.L.; Zhang, L.Q.; Cox, T.C.; von Hardenberg, S.; Lee, P.C.; Gooch, C.; Awotoye, W.; Gowans, L.J.J.; Hing, A.; Martin, N.; Weksberg, R.; Marazita, M.L.; Mononen, T.; Pfundt, R.; Koolen, D.A.; Raskin, S.; Scherer, S.W.; Sobriera, N.; Murray, J.C.; Lidral, A.C.; Butali, A.; Buckley, M.F.; Roscioli, T.; Seaver, L.H.; Prows, C.A.; Stottmann, R.W.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2023, 191(5):1227-1239)
Academic Journal
Wilderman, A.; Yankee, T.N.; Winchester, E.W.; D’haene, E.; Baetens, M.; Janssens, S.; Vergult, S.; Glidden, N.; Cotney, J.; Roets, E.; Van Dorpe, J.; Miller, D.E.; Galey, M.; Brown, K.M.; Weaver, K.N.; Brugmann, S.A.; Stottmann, R.W.; Cox, T.C.
In: Nature Communications . (Nature Communications, December 2024, 15(1))
Academic Journal
Liegel, R.P.; Vaidya, S.; Bittermann, E.; Finnerty, E.; Menke, C.A.; Stottmann, R.W.; Michalski, M.N.; Diegel, C.R.; Zhong, Z.A.; Williams, B.O.
In: Development (Cambridge) . (Development (Cambridge), February 2023, 150(3))
Academic Journal
Khalaf-Nazzal, R.; Fasham, J.; Leslie, J.S.; Wakeling, M.N.; Ubeyratna, N.; Turnpenny, P.D.; Crosby, A.H.; Baple, E.L.; Inskeep, K.A.; Stottmann, R.W.; Blizzard, L.E.; Pena, L.; Spaeth, C.G.; Mitani, T.; Pehlivan, D.; Akdemir, Z.C.; Posey, J.E.; Lupski, J.R.; Griffith, J.L.; Baker, W.; Al-Hijawi, F.; Keough, K.C.; Gezdirici, A.; Walsh, J.R.; Ray, R.; Neilson, A.; Kouranova, E.; Cui, X.; Curiel, D.T.; Dobyns, W.B.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 November 2022, 109(11):2068-2079)
Academic Journal
Baker, E.K.; Solivio, B.; Pode-Shakked, B.; Husami, A.; Hopkin, R.J.; Prada, C.E.; Stottmann, R.W.; Weaver, K.N.; Raas-Rothschild, A.; Chorin, O.; Barel, O.; Bar-Yosef, O.; Cross, L.A.; Sullivan, B.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, November 2022, 188(11):3262-3277)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, July 2022, 188(7):2258-2266)
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[AR] Stottmann, R.W.
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