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Page 1
The Missing "lnc" between Genetics and Cardiac Disease.
Azodi M, Kamps R, Heymans S, Robinson EL. Azodi M, et al. Among authors: kamps r. Noncoding RNA. 2020 Jan 14;6(1):3. doi: 10.3390/ncrna6010003. Noncoding RNA. 2020. PMID: 31947625 Free PMC article.
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: kamps r. Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018. Front Genet. 2018. PMID: 30369941 Free PMC article.
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM. Kamps R, et al. Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13. Eur J Hum Genet. 2018. PMID: 29440775 Free PMC article.
Human embryonic stem cell-derived cardiomyocytes as an in vitro model to study cardiac insulin resistance.
Geraets IME, Chanda D, van Tienen FHJ, van den Wijngaard A, Kamps R, Neumann D, Liu Y, Glatz JFC, Luiken JJFP, Nabben M. Geraets IME, et al. Among authors: kamps r. Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt B):1960-1967. doi: 10.1016/j.bbadis.2017.12.025. Epub 2017 Dec 20. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29277329 Free article. Review.
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Theunissen TEJ, Gerards M, Hellebrekers DMEI, van Tienen FH, Kamps R, Sallevelt SCEH, Hartog ENMM, Scholte HR, Verdijk RM, Schoonderwoerd K, de Coo IFM, Szklarczyk R, Smeets HJM. Theunissen TEJ, et al. Among authors: kamps r. Front Mol Neurosci. 2017 Oct 18;10:336. doi: 10.3389/fnmol.2017.00336. eCollection 2017. Front Mol Neurosci. 2017. PMID: 29093663 Free PMC article.
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. Among authors: kamps r. Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016. Front Neurol. 2016. PMID: 27899912 Free PMC article.
18 results