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1. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

2. DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis

4. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

5. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

6. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

7. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

8. GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

9. Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

10. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

11. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

12. How to proceed after 'negative' exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

13. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

14. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

15. Meta-analyses identify DNA methylation associated with kidney function and damage

16. Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus

17. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

18. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

19. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

20. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier


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