Felix Marbach

机构：University of Bonn, Heidelberg University, University Hospital Bonn, University Hospital Heidelberg, German Rectors' Conference, Tumour Institute of Tuscany · ORCID：0000-0003-3953-6235

发表论文 29 篇 · 总被引 297 次 · h-index 10

代表论文

• The adult phenotype of Schaaf-Yang syndrome (2020 · Orphanet Journal of Rare Diseases · 被引 34)
• Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2021 · Genetics in Medicine · 被引 30)
• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases (2023 · medRxiv · 被引 25)
• PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals (2023 · Frontiers in Cell and Developmental Biology · 被引 24)
• Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome (2024 · Cell Reports · 被引 15)
• A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome (2021 · Clinical Genetics · 被引 13)