معرفی
Dr. Atze Bergsma is an Assistant Professor at Erasmus MC, specializing in Pediatrics with a focus on molecular mechanisms underlying genetic disorders. His research emphasizes RNA-based therapies, diagnostic assays for genetic diseases like Pompe disease, and genotype-phenotype correlations in inherited metabolic disorders. He has contributed to developing in vitro models using iPSC-derived myotubes and enzymatic diagnostic protocols.
Key research areas include antisense oligonucleotide therapies, nonsense-mediated decay mechanisms, and variant database curation for clinical prediction. His work bridges molecular biology and clinical practice, particularly in pediatric genetics and biochemical diagnostics.
۰مقاله منتشرشده
Atze Bergsma در سایتهای دیگر
جستوجوهای مرتبط
شاید اینها هم برایتان مناسب باشند
- AArnold ReuserErasmus University Rotterdam · دانشیار
Htoo WaiUniversity of Southampton · پژوهشگر ارشد- MMay Aung-HtutMurdoch University · پژوهشگر ارشد
- MMarianne WesterveldErasmus University Rotterdam · پژوهشگر
- JJanna HolErasmus University Rotterdam · پژوهشگر
- MMike BroedersErasmus University Rotterdam · پژوهشگر