Browsing by Author "Hoischen, Alexander"

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    • Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific ... 
      Villanueva Bianchini, Pía; Nudel, Ron; Hoischen, Alexander; Fernández, María Angélica; Simpson, Nuala H.; Gilissen, Christian; Reader, Rose H.; Jara Sosa, Lilian; Echeverry, María Magdalena; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; O’Hare, Anne; Bolton, Patrick F.; Hennessy, Elizabeth R.; Palomino, Hernán; Carvajal Carmona, Luis; Veltman, Joris A.; Cazier, Jean-Baptiste; Barbieri Ortiz, Zulema de,; Fisher, Simon E.; Newbury, Dianne F. (Public Library Science, 2015)
      Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic ...
    • The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in ... 
      Nikkel, Sarah M.; Dauber, Andrew; Munnik, Sonja de; Connolly, Meghan; Hood, Rebecca L.; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; Santos da Cunha, Bruna; Delaney, Louisa A.; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M.; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V. A.; Lacombe, Didier; Lee, Chung; Lo, Ivan F.; Lucas, Luiza S.; Mari, Francesca; Mericq, Verónica; Moilanen, Jukka S.; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen; Slavotinek, Anne; Temple, I. Karen; Burgt, Ineke van der; Vries, Bert B. A. de; Weisfeld Adams, James D.; Whiteford, Margo L.; Wierczorek, Dagmar; Wit, Jan M.; Fung On Yee, Connie; Beaulieu, Chandree L.; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. (BioMed Central, 2013)
      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 ...