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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018.
Front Genet. 2018.
PMID: 30369941
Free PMC article.
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ.
Gerards M, et al. Among authors: calis cm.
J Med Genet. 2010 Aug;47(8):507-12. doi: 10.1136/jmg.2009.067553. Epub 2009 Jun 18.
J Med Genet. 2010.
PMID: 19542079
Free PMC article.
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Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H.
Gerards M, et al.
Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23.
Mitochondrion. 2010.
PMID: 20580948
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Post-natal myogenic and adipogenic developmental: defects and metabolic impairment upon loss of A-type lamins.
Kubben N, Voncken JW, Konings G, van Weeghel M, van den Hoogenhof MM, Gijbels M, van Erk A, Schoonderwoerd K, van den Bosch B, Dahlmans V, Calis C, Houten SM, Misteli T, Pinto YM.
Kubben N, et al.
Nucleus. 2011 May-Jun;2(3):195-207. doi: 10.4161/nucl.2.3.15731.
Nucleus. 2011.
PMID: 21818413
Free PMC article.
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Identification of differential protein interactors of lamin A and progerin.
Kubben N, Voncken JW, Demmers J, Calis C, van Almen G, Pinto Y, Misteli T.
Kubben N, et al.
Nucleus. 2010 Nov-Dec;1(6):513-25. doi: 10.4161/nucl.1.6.13512. Epub 2010 Sep 3.
Nucleus. 2010.
PMID: 21327095
Free PMC article.
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