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1. Qualitative properties of space-dependent SIR models with constant delay and their numerical solutions

3. AB0187 ULTRASOUND FEATURES IN PATIENTS WITH INFLAMMATORY ARTHRITIS AND ARTHRALGIA FOLLOWING IMMUNE CHECKPOINT INHIBITOR THERAPY FOR CANCER: RESULTS OF A MULTI-CENTRE STUDY

7. Reliability assessment of ultrasound muscle echogenicity in patients with rheumatic diseases: Results of a multicenter international web-based study

11. P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools

14. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

15. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

16. Treatabolome DB: linking gene and variants with treatments for rare diseases

17. Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum.

20. Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility

21. Natural Resources and Income Inequality in Developed Countries: Synthetic Control Method Evidence

22. A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome

26. A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome

28. Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

29. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

32. NEW GENES AND DISEASES

33. The integrated stress response contributes to tRNA synthetase–associated peripheral neuropathy

35. Treatabolome database: towards enhancing Rare Diseases’ treatment visibility

36. The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study

41. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

42. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

43. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

44. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

45. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

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