Williams syndrome: its clinical aspects and molecular bases
Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA. Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Review. Spanish1
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Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin
López-Exposito I, Guillén-Navarro E, Bafallíu JA, Bernabé MC, Escalona A, Fuster C. Eur J Med Genet. 2006 Nov-Dec;49(6):511-5. Epub 2006 Jun 23
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L. Neuromuscul Disord. 2006 Jul;16(7):449-53. Epub 2006 Jun 27
Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects
López I, Bafalliu JA, Bernabé MC, García F, Costa M, Guillén-Navarro E. Prenat Diagn. 2006 Jun;26(6):577-80
