Search

Search Constraints

You searched for: Author/Creator Rodenburg, Richard

Search Results

1. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders. Issue 3 (11th October 2014)

2. How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. Issue 4 (22nd May 2022)

4. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. (5th June 2018)

5. Investigating the cardiac pathology of SCO2‐mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell–derived cardiomyocytes. Issue 2 (28th November 2017)

6. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Issue 3 (15th February 2017)

7. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Issue 1 (December 2016)

8. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. (January 2018)

9. Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. Issue 6 (23rd December 2020)

10. Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity. Issue 1 (December 2016)