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2014

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
Madrigal, I., Alvarez-Mora, M.I., Karlberg, O., Rodríguez-Revenga, L., Elurbe, D.M., Rabionet, R., Mur, A., Pie, J., Ballesta, F., Sauer, S., Syvänen, A.C. and Milà, M.
Journal of Clinical Pathology 67 (12): 1099-1103. December 2014

2013

Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissues.
Becker, K., Vollbrecht, C., Koitzsch, U., Koenig, K., Fassunke, J., Huss, S., Nuernberg, P., Heukamp, L.C., Buettner, R., Odenthal, M., Altmueller, J. and Merkelbach-Bruse, S.
Journal of Clinical Pathology 66 (9): 803-806. 1 September 2013

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