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Human Reproduction (Oxford, England)|January 27, 2017
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boySuzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, et al.
The Journal of Pediatrics|January 14, 2017
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome SequencingTom E J Theunissen, Suzanne C E H Sallevelt, Debby M E I Hellebrekers, et al.
Human Molecular Genetics|July 11, 2006
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulationValerie L R M Verstraeten, Jos L V Broers, Maurice A M van Steensel, et al.
Neurogastroenterology and Motility|August 27, 2024
Intra- and interindividual variability in fasted gastric content volumeJulia J M Roelofs, Guido Camps, Louise M Leenders, et al.
Hormones and Behavior|January 7, 2015
Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndromeK Freriks, C M Verhaak, T C J Sas, et al.
European Journal of Gastroenterology & Hepatology|November 7, 2018
The association between obesity and outcomes in acute pancreatitis: an individual patient data meta-analysisXavier J N M Smeets, Iris Knoester, Karina V Grooteman, et al.
European Journal of Human Genetics : EJHG|February 15, 2018
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain diseaseRick Kamps, Radek Szklarczyk, Tom E Theunissen, et al.
Nature Communications|September 29, 2023
Iron oxide nanozymes stabilize stannous fluoride for targeted biofilm killing and synergistic oral disease preventionYue Huang, Yuan Liu, Nil Kanatha Pandey, et al.
Frontiers in Neurology|December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP DefectsTom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
Frontiers in Ophthalmology|July 10, 2024
Mitochondrial DNA <i>D-loop</i> variants correlate with a primary open-angle glaucoma subgroupAntoni Vallbona-Garcia, Patrick J Lindsey, Rick Kamps, et al.
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