Laurin-Sandrow syndrome: review and redefinition
Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI. Am J Med Genet A. 2008 Oct 1;146A(19):2557-65. Review
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Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome
Tejada MI, García-Alegría E, Bilbao A, Martínez-Bouzas C, Beristain E, Poch M, Ramos-Arroyo MA, López B, Fernandez Carvajal I, Ribate MP, Ramos F. Menopause. 2008 Sep-Oct;15(5):945-9
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
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