Publicaciones

Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention

Ceccanti M, Alessandra Spagnolo P, Tarani L, Luisa Attilia M, Chessa L, Mancinelli R, Stegagno M, Francesco Sasso G, Romeo M, Jones KL, Robinson LK, Del Campo M, Phillip Gossage J, May PA, Eugene Hoyme H. Neurosci Biobehav Rev. 2007;31(2):270-7

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome

Rodríguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, González-Meneses A, Gómez de Terreros I, Valdéz R, Gracia R, Lapunzina P. Am J Med Genet A. 2005 Oct 15;138A(3):272-7

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan…

Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser