R. Feichtinger

发表论文 141 篇 · 总被引 4888 次 · h-index 37

代表论文

• Role of Hydrogen Sulfide in Inflammatory Bowel Disease (2023 · Antioxidants · 被引 61)
• PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production (2023 · Science Translational Medicine · 被引 33)
• Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death (2023 · Journal of Clinical Investigation · 被引 27)
• Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder (2024 · Annals of Neurology · 被引 15)
• Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease. (2023 · Molecular Genetics and Metabolism · 被引 11)
• Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know. (2024 · European journal of paediatric neurology · 被引 9)