Current Issue

December 2018 - Volume 55 - 12

Cancer genetics

Neurogenetics

Diagnostics

Genome-wide studies

Developmental defects

  • Original article: Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome (22 November, 2018)
    Stefano Paolacci, Yun Li, Emanuele Agolini, Emanuele Bellacchio, Carlos E Arboleda-Bustos, Dido Carrero, Debora Bertola, Lihadh Al-Gazali, Mariel Alders, Janine Altmüller, Gonzalo Arboleda, Filippo Beleggia, Alessandro Bruselles, Andrea Ciolfi, Gabriele Gillessen-Kaesbach, Thomas Krieg, Shehla Mohammed, Christian Müller, Antonio Novelli, Jenny Ortega, Adrian Sandoval, Gloria Velasco, Gökhan Yigit, Humberto Arboleda, Carlos Lopez-Otin, Bernd Wollnik, Marco Tartaglia, Raoul C Hennekam

Epigenetics