A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

Por Helali, N, Iafolla, A K, Kahler, S G, Qumsiyeh, M B
Publicado em 1996

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Por Van Hove, J L, Zhang, W, Kahler, S G, Roe, C R, Chen, Y T, Terada, N, Chace, D H, Iafolla, A K, Ding, J H, Millington, D S
Publicado em 1993