Ulrike Orth
Universität Hamburg(DE)University Medical Center Hamburg-Eppendorf(DE)
Publications by Year
Research Areas
Retinal Development and Disorders, Ubiquitin and proteasome pathways, Neurological diseases and metabolism, Genetics and Neurodevelopmental Disorders, Hereditary Neurological Disorders
Most-Cited Works
- → Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa(2000)662 cited
- → Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation(2000)372 cited
- → Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness(1994)243 cited
- → Human monoamine oxidase A and B genes map to xp11.23 and are deleted in a patient with norrie disease(1989)202 cited
- → Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome(2006)161 cited
- → Missense rhodopsin mutation in a family with recessive RP(1994)95 cited