Hannelore Thiele
University of Cologne(DE)University Hospital Cologne(DE)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, RNA modifications and cancer, Diverse Scientific and Economic Studies, Human auditory perception and evaluation
Most-Cited Works
- → Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia(2002)326 cited
- → Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome(2004)239 cited
- → Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes(2001)223 cited
- → Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients(1993)120 cited
- → Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia(2005)118 cited
- → Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype(1992)117 cited
- → Phenotypic findings due to trisomy 7p15.3-pter including theTWIST locus