David L. Rimoin
Publications by Year
Research Areas
Connective tissue disorders research, Bone health and treatments, Bone Metabolism and Diseases, Dermatological and Skeletal Disorders, Growth Hormone and Insulin-like Growth Factors
Most-Cited Works
- → Central Challenges Facing the National Clinical Research Enterprise(2003)1,235 cited
- → Nosology and classification of genetic skeletal disorders: 2010 revision(2011)713 cited
- → Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3(1995)605 cited
- Emery and Rimoin's Principles and Practice of Medical Genetics(1997)
- → Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene(1995)517 cited
- → Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis(1973)508 cited
- → Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis(1999)346 cited