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Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

  • Guntram Borck
  • Friederike Hög
  • Maria Lisa Dentici
  • Perciliz L. Tan
  • Nadine Sowada
  • Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
  • ... [+16 authors] ...,
  • Bruno Dallapiccola
  • Nicholas Katsanis
  • Patrick Cramer
  • Christian Kubisch
  • First Published January 5, 2015
Research

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

  • M. Reza Sailani
  • Periklis Makrythanasis
  • Armand Valsesia
  • Federico A. Santoni
  • Samuel Deutsch
  • Konstantin Popadin Christelle Borel Eugenia Migliavacca Andrew J. Sharp Genevieve Duriaux Sail Emilie Falconnet Kelly Rabionet Clara Serra-Juhé Stefano Vicari Daniela Laux Yann Grattau Guy Dembour Andre Megarbane Renaud Touraine Samantha Stora Sofia Kitsiou Helena Fryssira Chariklia Chatzisevastou-Loukidou Emmanouel Kanavakis Giuseppe Merla Damien Bonnet
  • ... [+21 authors] ...,
  • Luis A. Pérez-Jurado
  • Xavier Estivill
  • Jean M. Delabar
  • Stylianos E. Antonarakis
  • First Published June 19, 2013
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