Publicaciones

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Enero 1, 2006

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

Enero 1, 2006

López I, Bafalliu JA, Bernabé MC, García F, Costa M, Guillén-Navarro E. Prenat Diagn. 2006 Jun;26(6):577-80

Fragile X syndrome

Enero 1, 2006

lóver-López G, Guillén-Navarro E. Rev Neurol. 2006 Jan 7;42 Suppl 1:S51-4.

Monogenic causes of X-linked mental retardation

Enero 1, 2006

Guillén-Navarro E, Glóver-López G. Rev Neurol. 2006 Jan 7;42 Suppl 1:S45-9

Publicaciones

Orden según fecha de publicación:

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

Fragile X syndrome

Monogenic causes of X-linked mental retardation