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Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome?

Jarmila VojtkováMiriam ČiljakováMiloš JeseňákPeter Bánovčin
Published in: Endokrynologia Polska (2019)
Keyphrases
  • case report
  • machine learning
  • deep learning
  • copy number
  • gene expression