Publicaciones

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence

Julio 1, 2008

Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. Hum Mutat. 2008 Jul;29(7):931-8

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Mayo 1, 2008

Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A. Am J Med Genet A. 2008 May 1;146A(9):1134-4157

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

Mayo 1, 2008

López-Expósito I, Bafalliu JA, Santos M, Fuster C, Puche-Mira A, Guillén-Navarro E. Am J Med Genet A. 2008 May 1;146A(9):1190-4

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Abril 1, 2008

Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA. BMC Med Genet. 2008 Apr 11;9:27

Publicaciones

Orden según fecha de publicación:

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration