Praxis für Humangenetik

Recent papers from Praxis für Humangenetik

1. From Mechanistic Insights to Rational Interventions in Parkinson’s Disease: An Integrated Approach with a Patient PerspectiveNeurology International · 2026
2. Prenatal Presentation of RMRP ‐Related Skeletal Dysplasia: Clinical and Genomic ExpansionAmerican Journal of Medical Genetics Part C Seminars in Medical Genetics · 2026
3. Novel TECTA Variants Reveal Distinct Molecular Mechanisms in Dominant and Recessive Hearing Loss2026
4. Baseline characteristics of patients with HFrEF on dapagliflozin: final analysis of baseline data from the EVOLUTION-HF DEallEF study HFrEF cohortEuropean Heart Journal · 2026
5. CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR functionEBioMedicine · 2026
6. The impact of a nurse navigation program on health, economic and medical outcomes of cancer patients in Saxony – a multicenter, prospective, randomized controlled trialResearch in Health Services & Regions · 2026
7. Adherence to European AIDS clinical society hepatitis B management guidelines in people with HIV: real-world evidence from Spain and GermanyAIDS · 2026
8. Inclisiran vs bempedoic acid for low-density lipoprotein cholesterol lowering in high-risk patients: the VICTORION-Challenge trialEuropean Heart Journal · 2026
9. Efficacy and safety of tiotropium in partial and uncontrolled preschool asthma (TIPP): a phase III, multicentre, randomised, double-blind, placebo-controlled trialEClinicalMedicine · 2026
10. Efficacy of a Decision‐Making Aid About Homeopathy in Patients With Cancer: A Single‐Arm, Pre–Post Observational StudyHealth Science Reports · 2026
11. Reframing sorghum biofortification: multi-trait nutritional dissection of Sudanese wild germplasm reveals extractability-driven breeding targetsFrontiers in Plant Science · 2026
12. HERZCHECK: Early Detection of Subclinical Preheart Failure Using Mobile Cardiac Magnetic Resonance and Telemedicine in Rural and Underressourced RegionsCirculation Heart Failure · 2026
13. Machine learning improves online self-referral for inflammatory rheumatic diseases: a registry-based validation studyRheumatology International · 2026
14. Limited predictive value of PD-L1 TPS for pathological response in NSCLC is not attributable to interobserver variabilityLung Cancer · 2026
15. Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedGenetics in Medicine · 2026
16. Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathwaysFrontiers in Pediatrics · 2026
17. Sex Differences and Treatment Gaps in Uncontrolled Hypertension: Real-World Evidence From GermanyJournal of Hypertension · 2026
18. Adherence to Hepatocellular Carcinoma Surveillance Guidelines Among People with HIV and Chronic HBV InfectionClinical Infectious Diseases · 2026
19. Deficiency of Inactive Rhomboid Protein 2 (iRhom2) Attenuates Macrophage AtherogenicityBiology · 2026
20. Market-segmented target product profiles for realigning sorghum breeding, seed systems, and value chains in Eastern SudanFrontiers in Sustainable Food Systems · 2026