Publications by authors named "Iris Marquardt"

13Publications

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Neonatal screening for defects of the mitochondrial trifunctional protein.

Mol Genet Metab 2005 Jun 24;85(2):108-14. Epub 2005 Mar 24.

Screening Laboratory, Hannover, Postfach 911009, D 30430 Hannover, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2005.02.002DOI Listing
June 2005