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Molecular Genetics and Metabolism|February 22, 2022
A retrospective cohort study exploring the association between different mitochondrial diseases and hearing lossCarlijn M A van Kempen, Andy J Beynon, Jeroen J Smits, et al.
Fertility and Sterility|February 17, 2009
Fertility status in male cystinosis patients treated with cysteamineMartine T P Besouw, Jan A M Kremer, Mirian C H Janssen, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 10, 2023
[Couples with risk of a child with a mitochondrial disease: wat are the reproductive options?]Debby M E I Hellebrekers, Christine E M de Die-Smulders, Mirian C H Janssen
Journal of Thrombosis and Thrombolysis|June 27, 2008
Ischemic neuropathy and rhabdomyolysis as presenting symptoms of postpartum cardiomyopathyRick C G Helmich, Hanneke W M van Laarhoven, Hennie C Schoonderwaldt, et al.
Nederlands Tijdschrift Voor Geneeskunde|January 19, 2013
[Complications due to receiving incorrect amino acid preparations]Adoree M van der Wiel, Mirian C H Janssen, Carla E M Hollack, et al.
Orphanet Journal of Rare Diseases|November 15, 2018
Fear of disease progression in carriers of the m.3243A > G mutationJosé A E Custers, Paul de Laat, Saskia Koene, et al.
Thrombosis and Haemostasis|June 22, 2005
Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factorsMirian C H Janssen, Martin den Heijer, Johannes R M Cruysberg, et al.
Molecular Genetics and Metabolism|March 10, 2026
The goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trialKristofoor E Leeuwenberg, Joanna IntHout, Jan T Groothuis, et al.
JIMD Reports|May 6, 2016
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyAnne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, et al.
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