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9. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Genet Med; 2019 May; 21(5):1199-1208. PubMed ID: 30287925 [Abstract] [Full Text] [Related]
17. Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies. Mohammad SA, Abdelaziz TT, Gadelhak MI, Afifi HH, Abdel-Salam GMH. Neuroradiology; 2018 Oct 13; 60(10):1053-1061. PubMed ID: 30074067 [Abstract] [Full Text] [Related]