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Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome. [PDF]
Front GenetBestetti I, Crippa M, Sironi A, Bellini M, Tumiatti F, Ballabio S, Ceriotti F, Memo L, Iascone M, Larizza L, Finelli P. +10 moreeuropepmc +1 more sourceIs Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study.
Fetal Diagn TherRybak-Krzyszkowska M, Madetko-Talowska A, Szewczyk K, Bik-Multanowski M, Sakowicz A, Stejskal D, Trková M, Smetanová D, Serafim S, Correia H, Nevado J, Angeles Mori M, Mansilla E, Rutkowska L, Kucińska A, Gach A, Huras H, Kołak M, Srebniak MI. +18 moreeuropepmc +1 more source