학술논문
'학술논문'
에서 검색결과 128건 | 목록
1~10
Academic Journal
Wincent, J.; Helgadóttir, H.T.; Salazar Mantero, A.; Malmgren, H.; Lindstrand, A.; Iwarsson, E.; Sergouniotis, F.; Carvalho, C.M.B.
In: Acta Obstetricia et Gynecologica Scandinavica . (Acta Obstetricia et Gynecologica Scandinavica, August 2024, 103(8):1564-1569)
Academic Journal
Grochowski, C.M.; Du, H.; Mahmoud, M.; Fatih, J.M.; Gibbs, R.A.; Sedlazeck, F.J.; Pehlivan, D.; Lupski, J.R.; Bengtsson, J.D.; Gandhi, M.; Lun, M.Y.; Mehaffey, M.G.; Park, K.; Carvalho, C.M.B.; Höps, W.; Benito, E.; Hasenfeld, P.; Korbel, J.O.; Paulin, L.F.; Jhangiani, S.N.; Hwang, J.P.; Bhamidipati, S.V.; Muzny, D.M.; Pendleton, M.; Harrington, E.; Juul, S.; Lindstrand, A.
In: Cell Genomics . (Cell Genomics, 10 July 2024, 4(7))
Academic Journal
Bassani, S.; Chrast, J.; Voisin, N.; Reymond, A.; Ambrosini, G.; Iseli, C.; Guex, N.; Schütz, F.; Brusco, A.; Sirchia, F.; Turban, L.; Schubert, S.; Abou Jamra, R.; Schlump, J.-U.; DeMille, D.; Bayrak-Toydemir, P.; Nelson, G.R.; Wong, K.N.; Duncan, L.; Mosera, M.; Gilissen, C.; Vissers, L.E.L.M.; Pfundt, R.; Kersseboom, R.; Yttervik, H.; Hansen, G.Å.M.; Smeland, M.F.; Butler, K.M.; Lyons, M.J.; Carvalho, C.M.B.; Zhang, C.; Lupski, J.R.; Potocki, L.; Flores-Gallegos, L.; Morales-Toquero, R.; Petit, F.; Yalcin, B.; Tuttle, A.; Elloumi, H.Z.; McCormick, L.; Kukolich, M.; Klaas, O.; Horvath, J.; Scala, M.; Zara, F.; Iacomino, M.; Operto, F.; Writzl, K.; Maver, A.; Haanpää, M.K.; Pohjola, P.; Arikka, H.; Kievit, A.J.A.; Calandrini, C.
In: Genome Medicine . (Genome Medicine, December 2024, 16(1))
Academic Journal
da Costa, S.S.; Fishman, V.; Pinheiro, M.; Rosenberg, C.; Krepischi, A.C.V.; Rodrigueiro, A.; Sanseverino, M.T.; Zielinsky, P.; Carvalho, C.M.B.
In: Chromosome Research . (Chromosome Research, June 2024, 32(2))
Academic Journal
Du, H.; Dardas, Z.; Jolly, A.; Grochowski, C.M.; Fatih, J.M.; Marafi, D.; Pehlivan, D.; Calame, D.G.; Carvalho, C.M.B.; Posey, J.E.; Coban-Akdemir, Z.; Lupski, J.R.; Jhangiani, S.N.; Li, H.; Muzny, D.; Yesil, G.; Elçioglu, N.H.; Gezdirici, A.; Gambin, T.
In: Nucleic Acids Research . (Nucleic Acids Research, 28 February 2024, 52(4):E18)
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome
Academic Journal
Mendonca, D.; Cappuccio, G.; Sheppard, J.; Delacruz, M.; Pehlivan, D.; Suter, B.; Maletic-Savatic, M.; Bajic, A.; Bengtsson, J.; Carvalho, C.M.B.; Park, H.; Kim, J.J.; Jafar-Nejad, P.; Coquery, C.
In: Stem Cell Research . (Stem Cell Research, February 2024, 74)
Academic Journal
Dardas, Z.; Marafi, D.; Duan, R.; Fatih, J.M.; Grochowski, C.M.; Carvalho, C.M.B.; Bi, W.; Du, H.; Gibbs, R.A.; Posey, J.E.; Calame, D.G.; Lupski, J.R.; El-Rashidy, O.F.; Jhangiani, S.N.; Zaki, M.S.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 2024)
Academic Journal
Smolka, M.; Paulin, L.F.; Mahmoud, M.; Behera, S.; Sedlazeck, F.J.; Grochowski, C.M.; Pehlivan, D.; Carvalho, C.M.B.; Horner, D.W.; Kalef-Ezra, E.; Proukakis, C.; Gandhi, M.; Hong, K.; Scholz, S.W.
In: Nature Biotechnology . (Nature Biotechnology, 2024)
Academic Journal
Dawood, M.; Akay, G.; Mitani, T.; Marafi, D.; Fatih, J.M.; Punetha, J.; Grochowski, C.M.; Du, H.; Jolly, A.; Li, H.; Coban-Akdemir, Z.; Sedlazeck, F.J.; Jhangiani, S.N.; Muzny, D.; Pehlivan, D.; Posey, J.E.; Carvalho, C.M.B.; Gibbs, R.A.; Lupski, J.R.; Gezdirici, A.; Najmabadi, H.; Kahrizi, K.; Hunter, J.V.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2023, 191(3):794-804)
Academic Journal
Hijazi, H.; Pehlivan, D.; Li, Y.; Fatih, J.M.; Marafi, D.; Rosenfeld, J.A.; Coban-Akdemir, Z.; Bi, W.; Gibbs, R.A.; Carvalho, C.M.B.; Posey, J.E.; Lupski, J.R.; Reis, L.M.; Muriello, M.; Syverson, E.; Semina, E.V.; Bernstein, J.A.; Bonner, D.; Estiar, M.A.; Gan-Or, Z.; Rouleau, G.A.; Lyulcheva, E.; Greenhalgh, L.; Tessarech, M.; Colin, E.; Guichet, A.; Bonneau, D.; van Jaarsveld, R.H.; Lachmeijer, A.M.A.; Ruaud, L.; Levy, J.; Tabet, A.-C.; Ploski, R.; Rydzanicz, M.; Kępczyński, Ł.; Połatyńska, K.; Hobson, G.M.; Hunter, J.V.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 December 2022, 109(12):2270-2282)
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[AR] Carvalho, C.M.B.
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