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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
J Pediatr. 2017 Mar;182:371-374.e2. doi: 10.1016/j.jpeds.2016.12.032. Epub 2017 Jan 9.
J Pediatr. 2017.
PMID: 28081892
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt SCEH, Gottschalk RWH, Calis CM, Stassen APM, de Koning B, Mulder-Den Hartog ENM, Schoonderwoerd K, Fuchs SA, Hilhorst-Hofstee Y, de Visser M, Vanoevelen J, Szklarczyk R, Gerards M, de Coo IFM, Hellebrekers DMEI, Smeets HJM.
Theunissen TEJ, et al. Among authors: mulder den hartog enm.
Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018.
Front Genet. 2018.
PMID: 30369941
Free PMC article.
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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ.
Theunissen TE, et al.
Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016.
Front Neurol. 2016.
PMID: 27899912
Free PMC article.
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Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy.
van Tienen F, Zelissen R, Timmer E, van Gisbergen M, Lindsey P, Quattrocelli M, Sampaolesi M, Mulder-den Hartog E, de Coo I, Smeets H.
van Tienen F, et al.
Stem Cell Res Ther. 2019 Dec 21;10(1):405. doi: 10.1186/s13287-019-1510-8.
Stem Cell Res Ther. 2019.
PMID: 31864395
Free PMC article.
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