Joubert syndrome: genotyping a Northern European patient cohort

Por Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine VAM, van Haaften, Gijs
Publicado no Eur J Hum Genet (2016)

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded...

Por de Leng, Wendy W. J., Gadellaa-van Hooijdonk, Christa G., Barendregt-Smouter, Françoise A. S., Koudijs, Marco J., Nijman, Ies, Hinrichs, John W. J., Cuppen, Edwin, van Lieshout, Stef, Loberg, Robert D., de Jonge, Maja, Voest, Emile E., de Weger, Roel A., Steeghs, Neeltje, Langenberg, Marlies H. G., Sleijfer, Stefan, Willems, Stefan M., Lolkema, Martijn P.
Publicado no PLoS One (2016)