Ute Hehr
University Hospital Regensburg(DE)Centre For Human Genetics(IN)Institute of Human Genetics(PL)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Fetal and Pediatric Neurological Disorders, Hedgehog Signaling Pathway Studies, Prenatal Screening and Diagnostics, Craniofacial Disorders and Treatments
Most-Cited Works
- → Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly(1999)427 cited
- → Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome(2010)366 cited
- → Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19(2021)251 cited
- → WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes(2009)228 cited
- → Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly(2012)215 cited
- → An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene(2005)178 cited