Publicaciones

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis

Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Hum Mol Genet. 2008 Dec 1;17(23):3761-6. Epub 2008 Sep 5

Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene

Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Haemophilia. 2008 Sep;14(5):1094-8. Epub 2008 Jul 25. Review

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

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