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de Masfrand, Servane; Cogné, Benjamin; Nizon, Mathilde; Deb, Wallid; Goldenberg, Alice; Lecoquierre, François; Nicolas, Gaël; Bournez, Marie; Vitobello, Antonio; Mau-Them, Frédéric Tran; le Guyader, Gwenaël; Bilan, Frédéric; Bauer, Peter; Zweier, Christiane; Piard, Juliette; Pasquier, Laurent; Bézieau, Stéphane; Gerard, Bénédicte; Faivre, Laurence; Saugier-Veber, Pascale; ... (2024). Penetrance, variable expressivity and monogenic neurodevelopmental disorders. European journal of medical genetics, 69, p. 104932. Elsevier 10.1016/j.ejmg.2024.104932
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; ... (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5
Bauer, Peter; Arand, Patricia; Radovanovic, Dragana; Muggli, Franco; Schoenenberger, Andreas W.; Schoenenberger-Berzins, Renate; Parati, Gianfranco; Ehret, Georg; Erne, Paul (2018). Assessment of Cardiac Function and Prevalence of Sleep Disordered Breathing using Ambulatory Monitoring with Acoustic Cardiography – Initial Results from SWICOS. Journal of hypertension and cardiology, 2(3), pp. 32-46. Open Access Pub 10.14302/issn.2329-9487.jhc-18-1932
Rothen, Hans U; Stricker, Kay; Einfalt, Johanna; Bauer, Peter; Metnitz, Philip G H; Moreno, Rui P; Takala, Jukka (2007). Variability in outcome and resource use in intensive care units. Intensive care medicine, 33(8), pp. 1329-36. Berlin: Springer-Verlag 10.1007/s00134-007-0690-3
