Header

UZH-Logo

Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 2.

Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sébastien; Olivié, Hilde; Park, Soo-Mi; Rauch, Anita; Revencu, Nicole; Rivière, Jean-Baptiste; Rubin, Karol; Simonic, Ingrid; Shears, Deborah J; Smol, Thomas; Taylor Tavares, Ana Lisa; Terhal, Paulien; Thevenon, Julien; Van Gassen, Koen; Vincent-Delorme, Catherine; et al (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54(7):479-488.

Amyere, Mustapha; Revencu, Nicole; Helaers, Raphaël; Pairet, Eleonore; Baselga, Eulalia; Cordisco, Maria; Chung, Wendy; Dubois, Josée; Lacour, Jean-Philippe; Martorell, Loreto; Mazereeuw-Hautier, Juliette; Pyeritz, Reed E; Amor, David J; Bisdorff, Annouk; Blei, Francine; Bombei, Hannah; Dompmartin, Anne; Brooks, David; Dupont, Juliette; González-Enseñat, Maria Antonia; Frieden, Ilona; Gérard, Marion; Kvarnung, Malin; Hanson-Kahn, Andrea Kwan; Hudgins, Louanne; Léauté-Labrèze, Christine; McCuaig, Catherine; Metry, Denise; Parent, Philippe; Paul, Carle; Weibel, Lisa; et al; Vikkula, Miikka (2017). Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation, 136(11):1037-1048.

This list was generated on Fri Apr 20 12:00:46 2018 CEST.