Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene

by Lin Shuan-Pei, Chen Chih-Ping, Lee Chien-Nan, Lin Shin-Yu, Hung Chia-Cheng, Chao Mei-Chyn, Chiou Shyh-Shin, Su Yi-Ning
Published 2011-05-01

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

by de Ru Minke H, Teunissen Quirine GA, van der Lee Johanna H, Beck Michael, Bodamer Olaf A, Clarke Lorne A, Hollak Carla E, Lin Shuan-Pei, Rojas Maria-Verónica, Pastores Gregory M, Raiman Julian A, Scarpa Maurizio, Treacy Eileen P, Tylki-Szymanska Anna, Wraith J Edmond, Zeman Jiri, Wijburg Frits A
Published 2012-04-01