Publications by authors named "Alexandra T M Hendrickx"

6Publications

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

Neuromuscul Disord 2019 09 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.08.005DOI Listing
September 2019

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

J Pediatr 2017 03 9;182:371-374.e2. Epub 2017 Jan 9.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.12.032DOI Listing
March 2017