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Research

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

  • Wouter Steyaert
  • Lydia Sagath
  • German Demidov
  • Vicente A. Yépez
  • Anna Esteve-Codina
  • Julien Gagneur Kornelia Ellwanger Ronny Derks Marjan Weiss Amber den Ouden Simone van den Heuvel Hilde Swinkels Nick Zomer Marloes Steehouwer Luke O'Gorman Galuh Astuti Kornelia Neveling Rebecca Schüle Jishu Xu Matthis Synofzik Danique Beijer Holger Hengel Ludger Schöls Kristl G. Claeys Jonathan Baets Liedewei Van de Vondel Alessandra Ferlini Rita Selvatici Heba Morsy Marwa Saeed Abd Elmaksoud Volker Straub Juliane Müller Veronica Pini Luke Perry Anna Sarkozy Irina Zaharieva Francesco Muntoni Enrico Bugiardini Kiran Polavarapu Rita Horvath Evan Reid Hanns Lochmüller Marco Spinazzi Marco Savarese Leslie Matalonga Steven Laurie Han G. Brunner Holm Graessner Sergi Beltran
  • ... [+44 authors] ...,
  • Stephan Ossowski
  • Lisenka E.L.M. Vissers
  • Christian Gilissen
  • Alexander Hoischen
  • First Published March 26, 2025
Method

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

  • Andrew J. Sharp
  • Eugenia Migliavacca
  • Yann Dupre
  • Elisavet Stathaki
  • Mohammad Reza Sailani
  • Alessandra Baumer Albert Schinzel Deborah J. Mackay David O. Robinson Gilda Cobellis
  • ... [+5 authors] ...,
  • Luigi Cobellis
  • Han G. Brunner
  • Bernhard Steiner
  • Stylianos E. Antonarakis
  • First Published July 14, 2010
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