Methylation-Specific PCR Unraveled

by Sarah Derks, Marjolein H. F. M. Lentjes, Debby M. E. I. Hellebrekers, Adriaan P. de Bruïne, James G. Herman, Manon van Engeland
Published 2004-01-01

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

by Maria Eleftheriadou, Evita Medici‐ van den Herik, Kyra Stuurman, Yolande vanBever, Debby M. E. I. Hellebrekers, Marjon vanSlegtenhorst, George Ruijter, Tahsin Stefan Barakat
Published 2021-02-01

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

by Tom E. J. Theunissen, Tom E. J. Theunissen, Mike Gerards, Debby M. E. I. Hellebrekers, Florence H. van Tienen, Rick Kamps, Suzanne C. E. H. Sallevelt, Elvira N. M. M.-D. Hartog, Hans R. Scholte, Robert M. Verdijk, Kees Schoonderwoerd, Irenaeus F. M. de Coo, Radek Szklarczyk, Hubert J. M. Smeets, Hubert J. M. Smeets, Hubert J. M. Smeets
Published 2017-10-01

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

by Tom E. J. Theunissen, Tom E. J. Theunissen, Minh Nguyen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Radek Szklarczyk, Mike Gerards, Mike Gerards, Irenaeus F. M. de Coo, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets, Hubert J. M. Smeets
Published 2018-10-01