Lisbeth Tranebjærg

机构：University of Copenhagen, Copenhagen University Hospital, Kennedy Center

发表论文 255 篇 · 总被引 12066 次 · h-index 58

代表论文

• Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia (2017 · Human Mutation · 被引 71)
• A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa (2016 · Hearing Research · 被引 64)
• Lessons learned from 40 novel PIGA patients and a review of the literature (2020 · Epilepsia · 被引 58)
• Erratum: Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening (2015 · European Journal of Human Genetics · 被引 58)
• A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct (2017 · Journal of Medical Genetics · 被引 49)
• Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC (2016 · Neurobiology of Disease · 被引 47)