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BMC Nephrology|November 2, 2019
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case reportSvetlana Papizh, Victoria Serzhanova, Alexandra Filatova, et al.
American Journal of Medical Genetics. Part A|February 16, 2006
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndromeEva Morava, Richard Rodenburg, Frans Hol, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 30, 2008
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosisMarije Löwik, Elena Levtchenko, Dineke Westra, et al.
American Journal of Medical Genetics. Part A|March 15, 2006
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutationsEva Morava, Richard J Rodenburg, Frans Hol, et al.
European Journal of Pediatrics|May 29, 2004
Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndromeEva Morava, Rob Sengers, Henk Ter Laak, et al.
Mitochondrion|June 14, 2011
Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndromeBart Smits, Lambert van den Heuvel, Hans Knoop, et al.
Frontiers in Neurology|May 14, 2021
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case ReportAziza Miriam Belkheir, Janine Reunert, Christiane Elpers, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|March 26, 2018
Connective tissue growth factor (CTGF) from basics to clinicsYasaman Ramazani, Noël Knops, Mohamed A Elmonem, et al.
Proteomics|August 19, 2009
LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexesHans J C T Wessels, Rutger O Vogel, Lambert van den Heuvel, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
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