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Alexandra Hendrickx

20062019

Research output per year

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Research Output

A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Hellebrekers, D. M. E. I., Blakely, E. L., Hendrickx, A. T. M., Hardy, S. A., Hopton, S., Falkous, G., de Coo, I. F. M., Smeets, H. J. M., van der Beek, N. M. E. & Taylor, R. W., Sep 2019, In : Neuromuscular Disorders. 29, 9, p. 693-697 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E. & Smeets, H. J. M., 12 Oct 2018, In : Frontiers in Genetics. 9, 17 p., 400.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De novo mtDNA point mutations are common and have a low recurrence risk

Sallevelt, S. C. E. H., de Die-Smulders, C. E. M., Hendrickx, A. T. M., Hellebrekers, D. M. E. I., de Coo, I. F. M., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R. & Smeets, H. J. M., Feb 2017, In : Journal of Medical Genetics. 54, 2, p. 114-124 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G. & Smeets, H. J. M., Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 886-888 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Theunissen, T. E. J., Sallevelt, S. C. E. H., Hellebrekers, D. M. E. I., de Koning, B., Hendrickx, A. T. M., van den Bosch, B. J. C., Kamps, R., Schoonderwoerd, K., Szklarczyk, R., Hartog, E. N. M. M-D., de Coo, I. F. M. & Smeets, H. J. M., Mar 2017, In : The Journal of Pediatrics. 182, p. 371-374 4 p.

Research output: Contribution to journalArticleAcademicpeer-review