학술논문
'학술논문'
에서 검색결과 36건 | 목록
1~10
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2024, 194(5))
Academic Journal
Koop, K.; Fuchs, S.; Van Hasselt, P.; Yuan, W.; Zhang, B.; Dawson, Z.D.; Lindsey, A.; Huang, H.; Baldridge, D.; Silverman, G.A.; Pak, S.C.; Schedl, T.; Tessadori, F.; Bakker, J.; Duran, K.; Rodriguez-Polanco, W.R.; Grant, B.D.; Grubbs, J.; Raizen, D.; Osmond, M.; Graham, G.; Sawyer, S.; Conboy, E.; Vetrini, F.; Treat, K.; Płoski, R.; Pienkowski, V.M.; Kłosowska, A.; Fieg, E.; Krier, J.; Mallebranche, C.; Alban, Z.; Aldinger, K.A.; Ritter, D.; MacNamara, E.; Sullivan, B.; Herriges, J.; Alaimo, J.T.; Helbig, C.; Ellis, C.A.; Van Eyk, C.; Gecz, J.; Farrugia, D.; Osei-Owusu, I.; Adès, L.; Van Den Boogaard, M.-J.; Van Haaften, G.; Rehmann, H.
In: Human Molecular Genetics . (Human Molecular Genetics, 1 November 2023, 32(21):3063-3077)
Academic Journal
In: Cold Spring Harbor Molecular Case Studies . (Cold Spring Harbor Molecular Case Studies, April 2023, 9(2))
Academic Journal
In: Ophthalmic Genetics . (Ophthalmic Genetics, 2023, 44(4):371-378)
Academic Journal
In: Clinical Genetics . (Clinical Genetics, April 2024, 105(4):455-456)
Academic Journal
Buchh, M.; Gillespie, P.J.; Treat, K.; Abreu, M.A.; Tae-Hwi Linus Schwantes-An; Helm, B.M.; Fang, F.; Xuei, X.; Mantcheva, L.; Suhrie, K.R.; Graha, B.H.; Conboy, E.; Vetrini, F.
In: Cold Spring Harbor Molecular Case Studies . (Cold Spring Harbor Molecular Case Studies, December 2022, 8(7))
Academic Journal
In Annals of Allergy, Asthma & Immunology November 2022 129(5) Supplement:S130-S130
Academic Journal
In: Cold Spring Harbor Molecular Case Studies . (Cold Spring Harbor Molecular Case Studies, February 2022, 8(2))
Academic Journal
Barish, S.; Ugur, B.; Bostwick, B.; Murdock, D.R.; Dai, H.; Yuan, B.; Chen, C.-A.; Rosenfeld, J.A.; Wangler, M.; Yamamoto, S.; Scott, D.A.; Bellen, H.J.; Barakat, T.S.; Perenthaler, E.; Nikoncuk, A.; van Slegtenhorst, M.; Brooks, A.S.; Michel, B.C.; Mashtalir, N.; Valencia, A.M.; Kadoch, C.; Phillips, J.B.; Wegner, J.; Westerfield, M.; Scott, T.M.; Keren, B.; Nava, C.; Mignot, C.; Douglas, J.; Rodan, L.; Nowak, C.; Ellard, S.; Stals, K.; Lynch, S.A.; Faoucher, M.; Lesca, G.; Edery, P.; Engleman, K.L.; Zhou, D.; Thiffault, I.; Herriges, J.; Gass, J.; Louie, R.J.; Stolerman, E.; Washington, C.; Vetrini, F.; Otsubo, A.; Pratt, V.M.; Conboy, E.; Treat, K.; Shannon, N.; Camacho, J.; Wakeling, E.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 December 2020, 107(6):1096-1112)
Academic Journal
Pino, G.; Conboy, E.; Tortorelli, S.; Minnich, S.; Nickander, K.; Lacey, J.; Peck, D.; Studinski, A.; White, A.; Gavrilov, D.; Rinaldo, P.; Matern, D.; Oglesbee, D.; Raymond, K.; Giugliani, R.; Burin, M.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, February 2020, 129(2):106-110)
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[AR] Conboy, E.
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