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Page 1
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26.
Eur J Hum Genet. 2017.
PMID: 28443623
Free PMC article.
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW.
Hellebrekers DMEI, et al. Among authors: hendrickx atm.
Neuromuscul Disord. 2019 Sep;29(9):693-697. doi: 10.1016/j.nmd.2019.08.005. Epub 2019 Aug 21.
Neuromuscul Disord. 2019.
PMID: 31488384
Free article.
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De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ.
Sallevelt SC, et al. Among authors: hendrickx at.
J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22.
J Med Genet. 2017.
PMID: 27450679
Free PMC article.
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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
Theunissen TEJ, Sallevelt SCEH, Hellebrekers DMEI, de Koning B, Hendrickx ATM, van den Bosch BJC, Kamps R, Schoonderwoerd K, Szklarczyk R, Mulder-Den Hartog ENM, de Coo IFM, Smeets HJM.
Theunissen TEJ, et al. Among authors: hendrickx atm.
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
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Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.
van Eijsden RG, Gerards M, Eijssen LM, Hendrickx AT, Jongbloed RJ, Wokke JH, Hintzen RQ, Rubio-Gozalbo ME, De Coo IF, Briem E, Tiranti V, Smeets HJ.
van Eijsden RG, et al. Among authors: hendrickx at.
Genet Med. 2006 Oct;8(10):620-7. doi: 10.1097/01.gim.0000237782.94878.05.
Genet Med. 2006.
PMID: 17079878
Free article.
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Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.
Dobrowolski SF, Hendrickx AT, van den Bosch BJ, Smeets HJ, Gray J, Miller T, Sears M.
Dobrowolski SF, et al. Among authors: hendrickx at.
Hum Mutat. 2009 Jun;30(6):891-8. doi: 10.1002/humu.21003.
Hum Mutat. 2009.
PMID: 19370763
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