Browsing by Author "Da Cunha, Bruna Santos"

Browsing by Author "Da Cunha, Bruna Santos"

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  • The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP 
    Nikkel, Sarah M.; Dauber, Andrew; De Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J.M.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; Da Cunha, Bruna Santos; Delaney, Louisa A.; Destree, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M.C.; Heron, Delphine; Hoischen, Alexander; Honey, Engela M.; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V.A.M.; Lacombe, Didier; Lee, Chung; Lo, Ivan F.M.; Lucas, Luiza S.; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S.; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sa, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen E.H.; Slavotinek, Anne; Temple, I. Karen; Van der Burgt, Ineke; De Vries, Bert B.A.; Weisfeld-Adams, James D.; Whiteford, Margo L.; Wit, Jan M.; Yee, Connie Fung On; Beaulieu, Chandree L.; FORGE Canada Consortium; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. (BioMed Central, 2013-04-27)
    BACKGROUND: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP ...