Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome von Fernández-Jaén, Alberto, Castellanos, María del Carmen, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, de la Vega, Alberto González, Calleja-Pérez, Beatriz, Fernández, Ester Corbacho, Albert, Jacobo, Hombre, María Carmen Sánchez

Volltext

Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion von Fernández-Jaén, Alberto, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Sánchez-Hombre, María del Carmen, Fernández, Ester Corbacho, López-Martín, Sara

Volltext

Chromosome Painting in Biological Dosimetry: Assessment of the Ability to Score Stable Chromosome Aberrations Using Different Pairs of Paint Probes von García-Sagredo, Jose M., Vallcorba, Isabel, López-Yarto, Ana, Maria Del Carmen Sanchez-Hombre, Resino, Monica, Ferro, Maria Teresa

Volltext

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome von Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo

Volltext