학술논문
'학술논문'
에서 검색결과 54건 | 목록
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Academic Journal
In Perfectionnement en Pédiatrie September 2019 2(3):217-223
Academic Journal
In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics . (American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2024)
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Academic Journal
Ha, T.; Slavotinek, A.; Morgan, A.; Amor, D.J.; Bartos, M.N.; Hurst, A.C.E.; Beatty, K.; Cogné, B.; Nizon, M.; Vincent, M.; Braun, D.; Gerber, C.B.; Gaspar, H.; Kopps, A.M.; Rieubland, C.; Zweier, C.; Pasquier, L.; Pfundt, R.; de Vries, B.B.A.; Reis, A.; Siu, V.M.; Tessarech, M.; Thompson, M.L.; Walsh, M.B.; Wechsler, S.B.; Schnur, R.E.; Guillen Sacoto, M.J.; Margot, H.; Masotto, B.; Palafoll, M.I.V.; Nawaz, U.; Voineagu, I.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 2024)
Academic Journal
Bianchi, C.; Fernandes, H.; Neyraud, C.; Aladjidi, N.; Margot, H.; Van Gils, J.; Pasquet, M.; Priqueler, L.; Roy-Peaud, F.; Bauduer, F.; Bayart, S.; Garnier, N.; Fain, O.; Joly, S.B.; Rialland, F.; Paillard, C.; Deparis, M.; Lambilliotte, A.; Leblanc, T.; Fahd, M.; Leverger, G.; Héritier, S.; Geneviève, D.; Rieux-Laucat, F.; Picard, C.
In: British Journal of Haematology . (British Journal of Haematology, 2024)
Academic Journal
Sabbagh, Q.; Ruault, V.; Willems, M.; Yauy, K.; Geneviève, D.; Haghshenas, S.; Levy, M.A.; McConkey, H.; Relator, R.; Kerkhof, J.; Sadikovic, B.; Piard, J.; Trouvé, C.; Amiel, J.; Attié-Bitach, T.; Lesieur-Sebellin, M.; Lyonnet, S.; Marzin, P.; Paulet, A.; Rio, M.; Rondeau, S.; Balci, T.; Karp, N.; Prasad, C.; Prasad, M.; Siu, V.M.; Barat-Houari, M.; Gatinois, V.; Ruiz-Pallares, N.; Sanchez, E.; Tharreau, M.; Belonis, A.; Brightman, D.S.; Boute, O.; Dufour, W.; Bruel, A.-L.; Philippe, C.; Sorlin, A.; Mau-Them, F.T.; Caraffi, S.G.; Peluso, F.; Zuntini, R.; Chatron, N.; Collet, C.; Perrin, L.; Verloes, A.; Edery, P.; Gouy, E.; Fong, C.-T.; Fusco, C.; Guerrot, A.-M.; Nicolas, G.; Heide, S.; Whalen, S.; Joshi, A.; Shears, D.; Keren, B.; Levy, J.; Lozano, C.; Margot, H.; Michaud, V.; Van Gils, J.; Nizard, M.; Pernin, V.; Tedder, M.; van der Laan, L.
In: Genetics in Medicine . (Genetics in Medicine, January 2024, 26(1))
Academic Journal
In Journal Français d'Ophtalmologie December 2023 46(10):e372-e373
Academic Journal
In: Frontiers in Neurology . (Frontiers in Neurology, 9 February 2023, 14)
Academic Journal
Marbach, F.; Caro, P.; Schaaf, C.P.; Lipska-Ziętkiewicz, B.S.; Knurowska, A.; Michaud, V.; Margot, H.; Lespinasse, J.; Tran Mau Them, F.; Denommé-Pichon, A.-S.; Coubes, C.; Park, J.; Grosch, S.; Roggia, C.; Grasshoff, U.; Kalsner, L.; Afenjar, A.; Héron, B.; Keren, B.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, September 2022, 188(9):2627-2636)
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[AR] Margot, H.
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