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Tom E J Theunissen

Showing results (1-10 of 7) with videos related to

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Biomedicines|February 24, 2024
Detection of <i>PTCH1</i> Copy-Number Variants in Mosaic Basal Cell Nevus SyndromeGuido M J M Roemen, Tom E J Theunissen, Ward W J Hoezen, et al.
European Journal of Human Genetics : EJHG|April 27, 2017
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotypeDebby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, et al.
Cell Reports|July 5, 2016
Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline CellsAuke B C Otten, Tom E J Theunissen, Josien G Derhaag, et al.
Frontiers in Molecular Neuroscience|November 3, 2017
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I DefectTom E J Theunissen, Mike Gerards, Debby M E I Hellebrekers, et al.
The Journal of Pediatrics|January 14, 2017
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome SequencingTom E J Theunissen, Suzanne C E H Sallevelt, Debby M E I Hellebrekers, et al.
Frontiers in Neurology|December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP DefectsTom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
Frontiers in Genetics|October 30, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseTom E J Theunissen, Minh Nguyen, Rick Kamps, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Biomedicines|February 24, 2024
Detection of <i>PTCH1</i> Copy-Number Variants in Mosaic Basal Cell Nevus SyndromeGuido M J M Roemen, Tom E J Theunissen, Ward W J Hoezen, et al.
European Journal of Human Genetics : EJHG|April 27, 2017
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotypeDebby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, et al.
Cell Reports|July 5, 2016
Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline CellsAuke B C Otten, Tom E J Theunissen, Josien G Derhaag, et al.
Frontiers in Molecular Neuroscience|November 3, 2017
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I DefectTom E J Theunissen, Mike Gerards, Debby M E I Hellebrekers, et al.
The Journal of Pediatrics|January 14, 2017
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome SequencingTom E J Theunissen, Suzanne C E H Sallevelt, Debby M E I Hellebrekers, et al.
Frontiers in Neurology|December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP DefectsTom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
Frontiers in Genetics|October 30, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseTom E J Theunissen, Minh Nguyen, Rick Kamps, et al.
Pageof 1