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ZAK as a cause of limb defects in humans and mice" > Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

  • Malte Spielmann
  • Naseebullah Kakar
  • Naeimeh Tayebi
  • Catherine Leettola
  • Gudrun Nürnberg
  • Nadine Sowada Darío G. Lupiáñez Izabela Harabula Ricarda Flöttmann Denise Horn Wing Lee Chan Lars Wittler Rüstem Yilmaz Janine Altmüller Holger Thiele Hans van Bokhoven Charles E. Schwartz Peter Nürnberg James U. Bowie
  • ... [+14 authors] ...,
  • Jamil Ahmad
  • Christian Kubisch
  • Stefan Mundlos
  • Guntram Borck
  • First Published January 11, 2016

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 April 1, 2015

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
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