A. Farouk

发表

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Genetic characterization of two 46,XX males without gonadal ambiguities

V. Chow, Sai Ma, C. Hatakeyama, 2008, Journal of Assisted Reproduction and Genetics.