부산대학교 도서관

Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R.; Rosenfeld, Jill A.; Luna, Pamela N.; Shaw, Chad A.; Scott, Daryl A.

European Journal of Human Genetics. :1-7

Cosima M. Schmid; Anne Gregor; Anna Ruiz; Carmen Manso Bazús; Isabella Herman; Farah Ammouri; Urania Kotzaeridou; Vanda McNiven; Lucie Dupuis; Katharina Steindl; Anaïs Begemann; Anita Rauch; Aude-Annick Suter; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Benjamin Cogné; Wallid Deb; Thomas Besnard; Tobias B. Haack; Ruth J. Falb; Amelie J. Müller; Tobias Linden; Chad R. Haldeman-Englert; Charlotte W. Ockeloen; Francesca Mattioli; Alexandre Reymond; Nazia Ibrahim; Shagufta Naz; Elodie Lacaze; Jennifer A. Bassetti; Julia Hoefele; Theresa Brunet; Korbinian M. Riedhammer; Houda Z. Elloumi; Richard Person; Fanggeng Zou; Juliette J. Kahle; Kirsten Cremer; Axel Schmidt; Marie-Ange Delrue; Pedro M. Almeida; Fabiana Ramos; Siddharth Srivastava; Aisling Quinlan; Stephen Robertson; Eva Manka; Alma Kuechler; Stephanie Spranger; Malgorzata J. M. Nowaczyk; Reem M. Elshafie; Hind Alsharhan; Paul R. Hillman; Leslie A. Dunnington; Hilde M. H. Braakman; Shane McKee; Angelica Moresco; Andrea-Diana Ignat; Ruth Newbury-Ecob; Guillaume Banneau; Olivier Patat; Jeffrey Kuerbitz; Susan Rzucidlo; Susan S. Sell; Patricia Gordon; Sarah Schuhmann; André Reis; Yosra Halleb; Radka Stoeva; Boris Keren; Zainab Al Masseri; Zeynep Tümer; Sophia Hammer-Hansen; Sofus Krüger Sølyst; Connolly G. Steigerwald; Nicolas J. Abreu; Helene Faust; Amica Müller-Nedebock; Frédéric Tran Mau-Them; Heinrich Sticht; Christiane Zweier

Eur J Hum Genet
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
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In JACC: Basic to Translational Science February 2026 11(2)

Hildegard Nikki Hall; David Parry; Mihail Halachev; Kathleen A Williamson; Kevin Donnelly; Jose Campos Parada; Shipra Bhatia; Jeffrey Joseph; Simon Holden; Trine E Prescott; Pierre Bitoun; Edwin P Kirk; Ruth Newbury-Ecob; Katherine Lachlan; Juan Bernar; Veronica van Heyningen; David R FitzPatrick; Alison Meynert

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In Genetics in Medicine February 2024 26(2)

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American Journal of Human Genetics, 108, 2, pp. 346-356
The American Journal of Human Genetics
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A J M, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S M, Banka, S, Bena, F S, Ben-Zeev, B, Bonagura, V R, Wellcome Trust Sanger Institute, Bruel, A L, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, Délot, E C, Démurger, F, Denommé-Pichon, A S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Snijders Blok, L, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M, Zuccarelli, B, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2021, ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2021.01.007
Am. J. Hum. Genet. 108, 346-356 (2021)
DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M C, Zuccarelli, B D, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2020 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction' bioRxiv, pp. 1-24. https://doi.org/10.1101/2020.10.23.352278
American Journal of Human Genetics, vol 108, iss 2

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