Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

Mert Karakaya(University of Cologne), Brunhilde Wirth(University of Cologne), Gilbert Wunderlich(University Hospital Cologne), Andrea Delle Vedove(University of Cologne), Bertold Schrank(Helios Kliniken), Uluç Yiş(Dokuz Eylül University), Janbernd Kirschner(University of Freiburg), Irmgard Hölker(University of Cologne), Aikaterini Vezyroglou(Great Ormond Street Hospital), Eike A. Strathmann(University of Cologne), Didem Ardıçlı(Hacettepe University Hospital), Hölger Thiele(Leipzig Heart Institute), Leyla Naghiyeva(University of Cologne), Salem Alawbathani(University of Cologne), Ólafur Þ. Magnússon(deCODE Genetics (Iceland)), Susanne Motameny(University of Cologne), Ehsan Ghayoor Karimiani(St George's, University of London), Ayşe Polat(Mersin Üniversitesi), Peter Nürnberg(Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases), Reza Boostani(Mashhad University of Medical Sciences), Markus Storbeck(University of Cologne), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Haluk Topaloğlu(Yeditepe University), Raoul Heller(University of Cologne), Lea Schmitz-Steinkrüger(University of Cologne), Janine Altmueller(University of Cologne), Derya Okur(Dokuz Eylül University)
Human Mutation
June 2, 2018
Cited by 53


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