Temtamy, Samia Ali Li

Top Publications

Top Publications Authored or Co-Authored by "Temtamy, Samia Ali Li"

• Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

  Nature Genetics, Volume 23, No. 4, Year 1999, Citations 473
• The genetics of hand malformations.

  Birth defects original article series, Volume 14, No. 3, Year 1978, Citations 327
• Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta

  American Journal of Human Genetics, Volume 87, No. 1, Year 2010, Citations 265
• Mutations in WNT1 cause different forms of bone fragility

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 245
• The genetics of hand malformations

  Year 1978, Citations 219