Amr, Khalda Sayed

Top Publications

Top Publications Authored or Co-Authored by "Amr, Khalda Sayed"

• 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
• LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

  American Journal of Human Genetics, Volume 86, No. 5, Year 2010, Citations 165
• A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient

  Molecular Genetics and Metabolism, Volume 97, No. 4, Year 2009, Citations 113
• Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

  Human Mutation, Volume 33, No. 10, Year 2012, Citations 93
• Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

  American Journal of Human Genetics, Volume 87, No. 6, Year 2010, Citations 82