Karen E. Heath
Hospital Universitario La Paz(ES)Centro de Investigación Biomédica en Red(ES)Instituto de Investigación de Enfermedades Raras(ES)Universidad Autónoma de Madrid(ES)
Publications by Year
Research Areas
Connective tissue disorders research, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Ubiquitin and proteasome pathways, RNA modifications and cancer, Lipoproteins and Cardiovascular Health
Most-Cited Works
- → KLF6 , a Candidate Tumor Suppressor Gene Mutated in Prostate Cancer(2001)448 cited
- → Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes(2001)298 cited
- → Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats(1997)150 cited
- → Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature(2017)145 cited
- → A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis(2005)133 cited
- → Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations(2016)128 cited