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1Academic Journal
المؤلفون: Bögershausen, N., Gatinois, V., Riehmer, V., Kayserili, H., Becker, J., Thoenes, M., Simsek-Kiper, P., Barat-Houari, M., Elcioğlu, N.H., Wieczorek, D., Tinschert, S., Sarrabay, G., Strom, T.M., Fabre, A., Baynam, G., Sanchez, E., Nurnberg, G., Altunoglu, U., Capri, Y., Isidor, B., Lacombe, D., Corsini, C., Cormier-Daire, V., Sanlaville, D., Giuliano, F., Sang, K.L., Kayirangwa, H., Nürnberg, P., Meitinger, T., Boduroglu, K., Zoll, B., Lyonnet, S., Tzschach, A., Verloes, A., Donato, N.D., Touitou, I., Netzer, C., Li, Y., Geneviève, D., Yigit, G., Wollnik, B.
المصدر: Hum. Mutat. 37, 847-864 (2016)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/27302555; info:eu-repo/semantics/altIdentifier/wos/WOS:000382777100002; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48929; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004
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2Audio
المؤلفون: Cormier-Daire, V, Huber, C, Baujat, J, Caumes, R, Kayirangwa, H, Le Merrer, M, Le Quan Sang, KH, Munnich, A
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3Academic Journal
المؤلفون: Lehman, N., Mazery, A.C., Visier, A., Baumann, C., Lachesnais, D., Capri, Y., Toutain, A., Odent, S., Mikaty, M., Goizet, C., Taupiac, E., Jacquemont, M.L., Sanchez, E., Schaefer, E., Gatinois, V., Faivre, L., Minot, D., Kayirangwa, H., Sang, K.‐H.L.Q., Boddaert, N., Bayard, S., Lacombe, D., Moutton, S., Touitou, I., Rio, M., Amiel, J., Lyonnet, S., Sanlaville, D., Picot, M.C., Geneviève, D.
المساهمون: French Ministry of Health (Programme Hospitalier de Recherche Clinique national), Fondation Maladies Rares and the French Kabuki Association
المصدر: Clinical Genetics ; volume 92, issue 3, page 298-305 ; ISSN 0009-9163 1399-0004