Publicaciones

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

Octubre 1, 2010

Santos M, Mrasek K, Madrigal I, Martorell MR, González-Meneses A, Rodríguez-Criado G, Milà M, Liehr T, Fuster C. Am J Med Genet A. 2010 Oct;152A(10):2661-3

Adaptive behaviour in Angelman syndrome: its profile and relationship to age

Septiembre 1, 2010

Gasca CB, Obiols JE, Bonillo A, Artigas J, Lorente I, Gabau E, Guitart M, Turk J. J Intellect Disabil Res. 2010 Nov;54(11):1024-9. doi: 10.1111/j.1365-2788.2010.01331.x. Epub 2010 Sep 20

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

Septiembre 1, 2010

Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. BMC Med Genet. 2010 Sep 22;11:137

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

Agosto 1, 2010

Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E. Eur J Med Genet. 2010 Aug 10

Publicaciones

Orden según fecha de publicación:

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

Adaptive behaviour in Angelman syndrome: its profile and relationship to age

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)