Methylation-Specific PCR Unraveled

Por Derks, Sarah, Lentjes, Marjolein H. F. M., Hellebrekers, Debby M. E. I., de Bruïne, Adriaan P., Herman, James G., van Engeland, Manon
Publicado no Cell Oncol (2004)

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

Por Nguyen, Minh, Boesten, Iris, Hellebrekers, Debby M E I, Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, de Coo, Irenaeus F M, Gerards, Mike, Smeets, Hubert J M
Publicado no Eur J Hum Genet (2016)

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Por van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne
Publicado no Clin Case Rep (2016)

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Por Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Publicado no Front Neurol (2016)